Alasdair G. W. Hunter's research while affiliated with Children's Hospital of Eastern Ontario and other places
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Publications (112)
Genetics has become a critical component of medicine over the past five to six decades. Alongside genetics, a relatively new discipline, dysmorphology, has also begun to play an important role in providing critically important diagnoses to individuals and families. Both have become indispensable to unraveling rare diseases. Almost every medical spe...
Mandibulofacial dysostosis with microcephaly (MFDM) is a multiple malformation syndrome comprising microcephaly, craniofacial anomalies, hearing loss, dysmorphic features, and, in some cases, esophageal atresia. Haploinsufficiency of a spliceosomal GTPase, U5-116kDa / EFTUD2, is responsible. Here, we review the molecular basis of MFDM in the 69 ind...
Malformations are found in 2%-3% of all infants born in the United States. An additional equal number of infants are later found to have malformations that were not obvious at birth. The third edition of Human Malformations and Related Anomalies is a comprehensive compilation of significant human malformations authored by 40 authorities in the fiel...
IDEAS (intellectual disabilities evaluation and advice system) provides the opportunity for physicians who are sending samples for the Greenwood Genetic Center (GGC) 92-gene X-linked intellectual disability (XLID) (formerly X-linked mental retardation) panel to have their male patient's clinical features reviewed by an experienced panel of six Clin...
Rhombencephalosynapsis (RES) is an uncommon cerebellar malformation characterized by fusion of the hemispheres without an intervening vermis. Frequently described in association with Gómez-López-Hernández syndrome, RES also occurs in conjunction with VACTERL features and with holoprosencephaly (HPE). We sought to determine the full phenotypic spect...
Renal coloboma syndrome, also known as papillorenal syndrome is an autosomal-dominant disorder characterized by ocular and renal malformations. Mutations in the paired-box gene, PAX2, have been identified in approximately half of individuals with classic findings of renal hypoplasia/dysplasia and abnormalities of the optic nerve. Prior to 2011, the...
Aside from gastroschisis and omphalocele, major defects of the ventral body (thoracoabdominal) wall are relatively uncommon and almost universally lethal. They are most often associated with other anomalies including those of the limbs that may range from amelia to mild positional deformations, unusual craniofacial malformations, and a variety of v...
Temtamy and McKusick suggested mouse disorganization (Ds) as a model for human tibial agenesis, fibular duplication and mirror foot, but the concurrent papers by Winter and Donnai and Donnai and Winter in 1989 kindled interest and led to continued reports of patients hypothesized as human equivalent of Ds (HEDs). Subsequent reports have tended to f...
Börjeson–Forssman–Lehmann syndrome (BFLS) is a rare X-linked mental retardation syndrome that is caused by germline mutations in PHF6. We describe a 9-year-old male with BFLS, who developed T-cell acute lymphoblastic leukemia (T-ALL). The PHF6 gene is located on the X chromosome and encodes a protein with two PHD-type zinc finger domains and four n...
IntroductionDifferential DiagnosisManifestations and ManagementResources
Facial angiofibromas are a major diagnostic sign for tuberous sclerosis (TS) and MEN1, and the former is probably the first disease to be considered by a geneticist when such lesions are found. They occur in up to 90% of persons with TS and 40-80% of individuals with MEN1. Early onset facial angiofibromas that are not associated with any other syst...
The recent series of articles describing human surface anatomy included an article on the ear by Hunter et al. [Hunter et al. (2009); Am J Med Genet Part A 149A: 40-60]. That publication did not include the incisura. This article provides an approach to assessing the incisura in the hope that others may find it useful and/or modify it as appropriat...
The literature abounds with reports of malformation syndromes in which human external ears are variously described as dysplastic, abnormal, large/small, low set, typical, or in some way unusual. Rarely is the ear well illustrated or described in meaningful detail. With few exceptions, such as Down syndrome, there is no real understanding of the deg...
Börjeson-Forssman-Lehmann syndrome is an X-linked condition caused by PHF6 mutations. The classical description of males with this disorder includes severe intellectual disability with epilepsy, microcephaly, short stature, obesity, hypogonadism, and gynecomastia. We present three males with PHF6 mutations whose features included deep-set eyes, lar...
An international group of clinicians working in the field of dysmorphology has initiated the standardization of terms used to describe human morphology. The goals are to standardize these terms and reach consensus regarding their definitions. In this way, we will increase the utility of descriptions of the human phenotype and facilitate reliable co...
Gastroschisis is a major malformation which requires immediate surgical care to return the exposed viscera to the abdominal cavity, parenteral nutrition until bowel motility permits oral feedings, and evaluation for coexisting malformations. Almost all cases are diagnosed prenatally using midtrimester ultrasound and maternal serum alphafetoprotein...
This study explored how aspects of the couple relationship contributed to the adjustment of 95 women who underwent prenatal diagnostic (PND) testing because of advanced maternal age (AMA). Participants completed self-report measures prior to genetic counseling (T1), during the waiting period for PND test results (T2), and after normal results were...
The discovery of relevant causative genes has subdued the lumping versus splitting debate with respect to a growing number of syndromes. However, it remains paramount to define unknown genesis syndromes as precisely and appropriately as possible in order to provide accurate prognosis and to facilitate future research. The presentation of a 14-month...
Discussion involving patient and family confidentiality, a consent to disclose results, concepts of beneficence and harm, and the health care professional's duty to warn and/or recontact family members generate concern and discussion. Principles and the practical implications arising from medical, legal, and ethical viewpoints are described.
The human pinna has a complex shape and yet the basic components of normal structure are remarkably constant between individuals. It is precocious in its appearance during embryogenesis and it has been subject to many developmental and surgical studies, yet questions remain as to its primary embryogenesis and the causes of its malformations. Unfort...
This study describes the course of a clinical trial designed to investigate the possible role of thrombophilic factors in limb reduction defects, which was abandoned after 1 year because lack of progress of the project through ethics review and the failure to make significant inroads in patient recruitment. Factors that are thought to have contribu...
Kabuki syndrome is a multiple congenital anomaly/mental retardation syndrome. This study of Kabuki syndrome had two objectives. The first was to further describe the syndrome features. In order to do so, clinical geneticists were asked to submit cases-providing clinical photographs and completing a phenotype questionnaire for individuals in whom th...
Down syndrome is the most common identifiable genetic cause of mental retardation. The facial appearance of persons with the syndrome is very characteristic and is frequently associated with other minor anomalies and malformations of other body systems, most importantly the cardiovascular and gastrointestinal systems. Individuals with Down syndrome...
Lathosterol 5-desaturase catalyzes the conversion of lathosterol to 7-dehydrocholesterol in the next to last step of cholesterol synthesis. Inborn errors of cholesterol synthesis underlie a group of human malformation syndromes including Smith-Lemli-Opitz syndrome, desmosterolosis, CHILD syndrome, CDPX2 and lathosterolosis. We disrupted the lathost...
We report a 7.5-year-old boy with loose translucent skin, aortic dilatation, hyperextensible veins, recurrent respiratory problems, pectus excavatum, arthralgias, lax joints, mild epiphyseal dysplasia, and umbilical and inguinal hernias. He also has developmental delay, progressive bilateral sensorineural hearing loss, an unusual facial appearance,...
Brachydactyly type A1 (BDA1) was the first disorder described in terms of autosomal dominant Mendelian inheritance. Early in the 1900s Farabee and Drinkwater described a number of families with BDA1. Examination of two of Drinkwater's families has revealed that, although they are not known to be related, both share a common mutation within the Indi...
Osteofibrous dysplasia (OFD) is a tumor-like bone lesion that occurs most often in the tibia, presenting as a painless swelling or anterior bowing. Radiographs show a well-circumscribed intracortical lucency, or multiple lucencies separated by sclerotic borders, associated with a diaphyseal expansion. The histogenesis of OFD and its possible relati...
The Coffin-Lowry syndrome has become well established since the first report of affected patients by Coffin et al. [1966: Am J Dis Child 112:205-213]. Since that time over a hundred cases have been reported and the responsible gene has been identified. However, there remains a paucity of long-term follow-up information on older patients with which...
Dysmorphology is the branch of clinical genetics in which clinicians and researchers study and attempt to interpret the patterns of human growth and structural defects. Reaching an accurate diagnosis for children with dysmorphic signs is important to their families, because it makes available all the accumulated knowledge about the relevant conditi...
There is a consensus among medical geneticists that it is desirable to recontact patients as new information becomes available. Furthermore, some have suggested that there are legal arguments to support an obligation, creating a duty to recontact. Thus far much of the discussion among medical geneticists has focused on the practical concerns of imp...
The I1307K allele of the APC gene has been shown to confer a modestly elevated risk of colorectal cancer in the Ashkenazi Jewish population (relative risk, 1.5-1.7). However, it is unclear whether the alteration predisposes to adenomas and whether the genetic information can be used in clinical practice. To further address the pathogenic significan...
This study reviewed hospital and genetics clinic records of 411 patients evaluated in our department from 1986 to 1997 inclusive. Major objectives were to establish how often and under what circumstances a specific genetic/syndrome diagnosis was made and to determine the value of laboratory tests in the hope of gaining a more selective approach to...
To develop and evaluate a decision aid designed to prepare patients of advanced maternal age for counseling about prenatal diagnostic testing.
A regional genetics center.
A before/after study.
Participants used an audioguided workbook to learn about options and outcomes and to clarify personal risks, values, questions, and predispositions.
21 women...
Self-esteem is considered one of the most important personality attributes. It correlates with physical and mental health and the ability to cope with stress. The attitudes of others, and the experiences of interacting with them, are considered as playing a major role in the development of self-esteem. Thus, those patients with disproportionate sho...
This article examines marital adjustment of couples who have had a child with dwarfism due to a skeletal dysplasia, and of couples where one or both members are dwarfs. The instrument used was the Dyadic Adjustment Scale developed by Spanier [1976: Marriage Family 38:15-38]. The reasons for examining this psychosocial aspect of dwarfism were that t...
To better define the knowledge and attitudes of practicing physicians about genetics; specifically molecular genetics. Further, to examine differences between four practice specialties and to assess variables that affect both knowledge and attitudes.
A mail-in survey was sent to a random sample of non-geneticist physicians, with a second copy sent...
Social support has been shown to be an important influence on how an individual copes with a number of stresses, including acute and chronic illness, psychiatric morbidity, and life events. It can be thought of as a dynamic process consisting of a network of persons who are available to provide support, and the level of support that is perceived to...
Studies concerning the psychosocial aspects of skeletal dysplasias that cause disproportionate short stature have been few and have usually involved small numbers of patients. As part of a study involving patients with chondrodysplasias and their families, an assessment battery of standardised instruments designed to measure depression, anxiety, se...
Intrafamilial dynamics, including those between parents, and between parents and their children, have an important influence on the ultimate success or failure of a child's becoming a well adapted and socially integrated individual. Disability and/or birth defects, such as dwarfism, may alter family functioning, either because of the psychological...
Individuals with chondrodysplasias may have disproportionate short stature and in some cases a distinctive facial appearance. These physical signs have the potential of affecting parent-child interactions and those of the dwarfed person with broader society. Depression and anxiety are two psychological symptoms with potential for a major impact on...
This study sought to determine the rate of familial occurrence of congenital bicuspid aortic valve (BAV) by using echocardiography to screen family members.
Congenital BAV is a common anomaly that carries with it a significant risk of potential long-term cardiac complications. Despite several reports of the familial occurrence of BAV, the condition...
The molecular genetic diagnosis of spinal muscular atrophy (SMA) has recently been complicated by the identification of two candidate genes, which are often deleted in affected individuals but are also occasionally deleted in apparently unaffected carriers. We present a compilation of genotypes, from our laboratory and recent reports, for the survi...
Neural tube defects remain the most serious common birth defect and, despite considerable progress in understanding these malformations, the etiology of most cases remains unknown. It has been proposed that the cause may vary with the type and location of the malformation but, if these variables are to be studied, a rigorous classification of cases...
Craniofacial anthropometric analysis is a generally accessible technique that potentially offers an objective tool to reduce the subjectivity of syndrome diagnosis and to aid in differential diagnosis. The chondrodysplasias might seem an unlikely target for this technique in that they mainly cause disproportionate growth and are subject to radiogra...
Standard curves developed for the general population cannot be used to assess the growth of an individual who has a condition that results in disproportionate short stature. For this reason, efforts have been made to develop growth curves specific for several of the chondrodysplasias. However, data concerning weight for height have been largely lac...
Several pathogenetic factors, alone or in combination, may contribute to the increased frequency of respiratory complications in achondroplasia. It has been suggested that relatively small chest circumference sometimes may contribute. However, there are no published curves of chest circumference for age in achondroplasia with which to compare patie...
Single copies of tiny chromosome fragments, appearing either as single or as double minutes, were observed in a high frequency in amniotic fluid cultures of five mothers who underwent prenatal testing because of advanced age. In four cases, the minutes had arisen de novo. The minutes were later confirmed in fetal skin following termination of pregn...
We have carried out a follow-up study of 13 children with Wiedemann-Beckwith syndrome (WBS) using a standard protocol which included facial anthropometric measurements. We confirm that most patients with WBS do well and that their clinical abnormalities become less apparent with age. We suggest that there is a characteristic neonatal appearance in...
A fetal thigh muscle biopsy was performed at 18 weeks and 6 days' gestation using an automatic 18-gauge biopsy needle. A positive immunoreaction with antisera to the amino- and carboxy-terminals of dystrophin excluded Duchenne muscular dystrophy from this at-risk male.
We report on a stillborn male infant with a mosaic ring 13 karyotype (45,XY,-13/46,XY,-13,+r(13)) with apparent aprosencephaly and clinical findings similar to those reported previously in the XK-aprosencephaly syndrome. Findings of patients with r(13) are often similar to those seen in individuals with del(13q). This case was unusual because of th...
The rate of spontaneous and mitomycin C induced chromosome breakage and sister chromatid exchange (SCE) was studied in three related cases diagnosed with VACTERL-H syndrome. There have been recent reports of sporadic patients with VACTERL-H in whom high rates of chromosome breakage were observed. This has led to the suggestion that some of these pa...
A balanced complex chromosome rearrangement (BCCR) involving 3 chromosomes with 4 breakpoints, was identified in a 36-yr-old woman who was studied because her fetus was discovered to have an unbalanced reciprocal translocation (7q;10q). Analysis of high resolution bands and the application of fluorescence in situ hybridization has identified the BC...
Myotonic dystrophy (DM) is an autosomal-dominant disorder that affects 1 in 8000 individuals. Amplification of an unstable trinucleotide CTG repeat, located within the 3' untranslated region of a gene, correlates with a more severe DM phenotype. In three cases, the number of CTG repeats was reduced during the transmission of the DM allele; in one o...
Recently an unstable trinucleotide CTG repeat, located within the 3′ untranslated region of a gene on 19q13.3 was discovered in kindreds with myotonic dystrophy (DM). The age-of-onset/severity of DM shows a good correlation with CTG repeat size, and pedigrees and data reported to date have shown a striking trend toward amplification of the size of...
Renal tubular dysgenesis is a recently recognized autosomal recessive condition characterized by short and poorly developed proximal convoluted tubules, leading to oligohydramnios, Potter sequence, and neonatal respiratory failure. We report an additional 9 cases from one pediatric center, suggesting that this syndrome is not as rare as was previou...
We report 6 affected males in a 5-generation family with X-linked Simpson-Golabi-Behmel (SGB) syndrome. All had pre- and postnatal overgrowth with 2 adult males attaining heights over 195 cm. Other features included “coarse” face with hypertelorism, broad nasal root, cleft palate, full lips with a midline groove of the lower lip, grooved tongue wit...
Ivemark et al. first described sibs with renal-hepatic-pancreatic dysplasia (RHPD) (Ivemark BI, Oldfelt V, Zetterström R (1959): Acta Pediatr Scand 48: 1-11). Subsequent reports of affected individuals have described additional malformations and syndromes associated with RHPD. In this paper we describe 2 sibs with RHPD in association with Dandy-Wal...
We report a patient whose clinical, radiologic and histopathologic findings are compatible with severe atelosteogenesis (AT-I). The patient is compared with previously reported cases of AT-I, as well as with patients reported as having "boomerang" dysplasia. We conclude that it is reasonable to consider AT-I and boomerang dysplasia as part of a spe...
A diagnosis of Smith-Lemli-Opitz syndrome was made shortly after birth in a small-for-dates infant, on the basis of a characteristic face, penoscrotal hypospadias, bilateral postaxial hexadactyly, and bilateral syndactyly of toes 2-3. The clinical course was marked by failure to thrive, severe delay, refractory myoclonic jerks beginning at age 2 mo...
The gene for myotonic dystrophy (DM), the most common form of adult muscular dystrophy, has previously been mapped to the proximal long arm of chromosome 19. We have conducted linkage analysis on 53 DM families (comprising 421 individuals) using seven DM-linked DNA markers. This analysis, combined with our somatic cell hybrid mapping panel data, pl...
We describe 2 male maternal first cousins, 7 years and 7 months old, with a previously unreported pattern of malformations including lax skin, joint hyperextensibility, umbilical and inguinal herniae, craniosynostosis, pectus carinatum, several abnormally shaped vertebrae, enamel hypoplasia and hypocalcification of the teeth, facial abnormalities a...
Central nervous system defects including hydrocephalus are rare in cases of VACTERL association. However, recent reports suggest that there may be one or more disorders in which this combination of anomalies occurs. We report 8 additional patients including a recurrence in a previously described family, review the literature, and provide some popul...
Two cases of prolonged survival of thanatophoric dysplasia are presented, in which ventilatory support was initiated in the neonatal period because of respiratory distress. Both patients required a ventriculoperitoneal shunt for hydrocephalus and had decompression of the posterior fossa. The history of each patient has been characterized by profoun...
The gene for human apolipoprotein C2 (APOC2), situated on the proximal long arm of chromosome 19, is closely linked to the gene for the most common form of adult muscular dystrophy, myotonic dystrophy (DM). Six APOC2 RFLPs (TaqI, BglI, BanI, BamHI, NcoI, and AvaII) have been identified to date. We have conducted a comprehensive DM linkage study uti...
A girl with mild geroderma osteodysplastica is reported in order to raise the profile of this autosomal recessive condition which may be underdiagnosed. The important signs of this syndrome include a droopy, jowly face with a degree of malar hypoplasia and mandibular prognathism, lax, but non-hyperelastic skin, most marked over the extremities, and...
A young man who was seen intermittently over a period of 12 years appears to suffer from a subtle, relatively mild form of multiple epiphyseal dysplasia that resulted in disproportionately short stature and some limitation of movement at major joints. He also had several congenital malformations, including hypospadias, pulmonic valve stenosis, and...
We present a remarkable chain of events in which percutaneous umbilical cord sampling was performed in an attempt to clarify a situation of possible fetal sex chromosome mosaicism in an amniotic fluid culture and led to the discovery that the mother herself had a 45,X/46,XX/47,XXX chromosome constitution. This may have simply represented the chance...
Choroideremia is a distinct blinding condition with an X-linked pattern of inheritance. We have analyzed two RFLPs, DXS3 and DXYS1, for linkage with the choroideremia locus (TCD) within three kindreds. A maximum LOD score of 3.98 was obtained at theta = 0.14 for TCD:DXS3. The summed maximum LOD score from this study and from previously published TC...
In April 1985, having completed a study of the short-term complications of chorionic villus sampling (CVS), we began a randomized comparison of CVS versus amniocentesis. Our study continued over a 15-month period, and during that time we had difficulty recruiting patients, with only 10.6% of 1254 women referred for prenatal diagnosis fully particip...
Infantile neuroaxonal dystrophy (IND) is a well-established autosomal recessive neurodegenerative disease. Clinical signs generally begin toward the end of the first or during the second year of life. We are aware of at least 4 cases of pre- or perinatal onset of this condition, and report here on 2 brothers who were affected at birth and had an un...
Three hundred and fifty-four women who underwent midtrimester genetic amniocentesis were matched for age, parity, indication, and smoking history, with an equivalent number of women who had declined the procedure, for the purpose of comparing the neonatal respiratory status of their offspring. There was no evidence that the infants exposed to genet...
Greater use of genetic amniocentesis in the Eastern Ontario region occurred once the results from the various national trials were published. Acceptance also paralleled an increase in the number of low parity older women having children and the centralisation and greater publicity given to our programme in the late 1970s. A centralised approach has...
Skin fibroblasts from a patient with mild osteogenesis imperfecta (OI) type IV synthesize two populations of type I procollagen molecules. One population contains pro alpha 1(I) and pro alpha 2(I) chains that migrate normally in sodium dodecyl sulfate polyacrylamide gel electrophoresis (SDS-PAGE) and a second population contains only slower migrati...
It is widely accepted that the primary event in the amniotic band sequence (ABS) is early rupture of the amnion, and that the development of the fetus is then disrupted by entanglement and abrasion. The mechanism of the initial rupture is unknown. An argument raised in favor of this theory has been the apparent absence of non-band-derived malformat...
We report on a mother and son with a similar facies characterized by a square forehead, small nose, telecanthus, and thin upper lip. They both had a similar metacarpal-phalangeal profile characterized by marked brachytelephalangy. They were both short in comparison to other family members, and the son had hypogonadotropic-hypogonadism and anosmia....
A study was carried out to develop proficiency in performing chorionic villus sampling (CVS) and to determine whether the risk for miscarriage was so high as to preclude a randomized clinical trial comparing CVS with amniocentesis. A total of 202 women who had decided to have induced abortions volunteered to either undergo CVS (101 women) or be a c...
We report a child with clinical features remarkably similar to those of our patient reported as tetrasomy 21 in 1982. Improved banding in this, and the previous case, together with gene dosage studies, and subsequent reports in the literature lead us to conclude that these patients are in fact tetrasomic for 12p. The clinical features of these chil...
G banded chromosomal analysis of cells from a routine amniocentesis revealed a Y to X translocation in the fetus. The same unbalanced translocation was found in the mother who was disproportionately short. H-Y antigen titers in the mother were intermediate and steroid sulfatase activity was in the normal female range. At birth the baby exhibited fe...
This paper describes a newborn with a number of clinical manifestations compatible with duplication 16p due to a 46, XY, -7, +der (7), t(7;16) (p22;p13) pat karyotype. In addition, the baby had chondrodysplasia punctata, whose distribution of lesions did not match any of the well-documented forms of these disorders. The baby also had microcornea an...
The derivation of a 46,XY,del(1)(q42) chromosome complement in a mentally retarded child from a maternal paracentric inv(1)(q42q44) is discussed and the clinical findings are compared to previously reported cases of the same deletion syndrome.
A newborn with partial trisomy 2q, due to a maternal (2;6) translocation is presented. The baby had microcephaly, a prominent forehead, hypertelorism, a broad nose with a flat nasal bridge, a long philtrum, micrognathia, and low set ears which are common to cases with partial 2q trisomy. Additional findings of aniridia and marked corneal pathology...
This paper reports the results of a study of families in the Eastern Ontario/Western Quebec region who had a child born with a neural tube defect during the years 1969-1981. As in several other geographic areas, the prevalence of neural tube defects at birth has fallen from previous levels. However, there was no evidence of further decline during t...
A 10-year-old boy with developmental delay, craniofacial dy smorphia, malformations of the hands and feet and a cardiac malformation was found to have a small deletion of the distal region (q33 → qter) of the long arm of a chromosome 4. The clinical findings in this case are compared with those of a 17-week-old girl recently found to have the same...
We report a case of Turner's syndrome diagnosed by ultrasonography in the second trimester of pregnancy, and discuss the findings that may be diagnostic of this condition.
The Coffin-Lowry syndrome is an established syndrome of mental retardation, a characteristic facies and skeletal anomalies. This paper describes 12 cases from eight families and compares their findings with those of previously reported patients. The differential diagnosis is considered. Physical findings and pedigree data strongly support X-linked...
A male infant with several clinical signs of Down syndrome, but with additional features not usually seen in that syndrome, was found to have a 47, XY, t(21;21) karyotype in all skin fibroblasts examined. The same karyotype occurred with very low frequency and together with a normal cell line in blood lymphocytes. We have been unable to find report...
Experience indicates that the most likely explanation for a mixture of 46,XX/46,XY cells in an amniotic fluid sample is that of maternal cell contamination and that a normal male child is to be expected at birth. We report the bith of a normal female child following prenatal diagnosis of such a mixture. Extensive postnatal studies failed to reveal...
In this paper we report an extended family with well documented autosomal dominant hypoparathyroidism which was ascertained through a proband with coincident nephrogenic diabetes insipidus. Clinical findings were limited to a slight decrease in overall stature and to clinical signs of hypocalcaemia. Intelligence was normal and two patients were asy...
This preliminary report concerns the types, and the possibility of prevention, of mental retardation found among 406 patients less than 20 years of age and with IQS^50 who had been admitted to institutions for the retarded in Manitoba prior to 1977. The retardation appeared to be of genetic origin in 27'8 per cent of cases, and acquired in a furthe...
Citations
... Beyond genetic information, parents play a vital role in instilling positive health behaviors in adolescents at risk of SCD. 47 Encouraging a healthy lifestyle, including proper nutrition, regular physical activity, and stress management, contributes to overall well-being and may mitigate the impact of SCD complications. Parental guidance and support are essential in fostering a proactive approach to health among adolescents. ...
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... As development proceeds, the PMn muscle gradually fuses with the PMj muscle, becoming functionally integrated with it. [14] ...
... It has been reported that 75% of patients are sporadic cases that result from de novo mutations, whereas 19% are familial cases with an autosomal dominant inheritance pattern. The remaining 6% of cases are due to germline mosaicism (Huang et al., 2016). A clear phenotype-genotype correlation has yet to be established (Yu et al., 2018). ...
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... First pregnancy is more likely to have these defects, and the exact reason for this is not clear; however it is thought that the vascularity of a multi gravid uterus is likely to be better than that of a Primi gravid uterus. [7,8] Antenatal risk factors associated with amniotic band syndrome include prematurity of less than 37 weeks, low birth weight of less than 2,500 g, [5] maternal illness during pregnancy, maternal drug exposure, and maternal hemorrhage/trauma. [9] It is difficult to visualize the amniotic bands in the first trimester also more difficult is to identify these bands if they are present in the extremities. ...
Reference: Acrania-exencephaly-anencephaly sequence
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... In Islam planting Aqidah is done since choosing a soul mate, therefore it is necessary to be careful in choosing a soul mate because the nature of the father and the nature of the mother will decrease in the child, in addition the Prophet taught 4 criteria in determining a soul mate, and affirmed by his word-ا و ُ ر َّي خ خ َت م ُ ك ِ ف خ ط ُ ن ِ ل -which leads to choosing a good partner, so that in marriage will give birth to good offspring as well, According to Gillian Turner (Hunter et al., 2014) a geneticist from Autralia stated that the intelligence of the boy passed down from his mother is probably the secret of the prophet's hadith ...
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... These are formed through a complex developmental process which eventually gives the pinna a unique morphology in every individual (Moore et al., 2011). The features of the pinna are used by clinicians in diagnosis of congenital disorders (Hunter and Yotsuyanagi, 2005). It is used as an index to determine microtia and macrotia, to diagnose first arch disorders including Treacher Collins' syndrome (Farkas, 1978), and chromosomal abnormalities like Down's syndrome (Sforza et al., 2005). ...
... [22] Also it has been associated with the increased adenomatous polyp formation which may also be a cause in an increased risk of transition from adenoma to invasive cancer. [23] Finally, this allele is considered as the ancestor of modern I1307K alleles existed 87.9-118 generations ago (2, 200-2, 950 years ago) [24] by evolution, whether this allele is carried in our people or not? The current study shows that out of the total 30 blood samples, the results were (100%) negative (Wild type) for specific polymorphism of APCB gene. ...
... 2.Comments. Apolipoprotein C-II was previously found not to be polymorphic for PstI using Southern blot analysis of genomic D N A (Frossard et al. 1986;Korneluk etOffprint requests to: B. R. Zysowal. 1987). ...
... In addition, Gomez Lopez Hernandez (GLH) syndrome in one case (2.5%) and VACTERL-H ('Vertebral anomalies, Anal atresia, Cardiovascular anomalies, Trachea-oesophageal fistula, Renal anomalies, Limb defects') association in 6 cases (15%) were identified [17]. GLH syndrome is characterized by the triad of RES, trigeminal anesthesia and bilateral parieto-occipital alopecia with typical craniofacial anomaly including hypertelorism, brachyturricephaly and midface retrusion and a short stature [41]. In this regard, some authors suggested that if a diagnosis of RES is made, GLH syndrome and VACTERL association should be excluded [41]. ...
... Achondroplasia is an autosomal dominant condition, although approximately 80% of cases occur sporadically [7]. The clinical features of achondroplasia include disproportionate short stature [8]; rhizomelic shortening of the limbs [9,11]; macrocephaly with frontal bossing [10][11][12][13]; midface hypoplasia [11,13]; a smaller than average chest [14,15]; thoracolumbar kyphosis [16]; lumbar lordosis [17]; hypermobile joints but limited extension and rotation of the elbow and hip despite general laxity of the hip [10][11][12]18]; tibial bowing [6,11,13,17]; and brachydactyly [6,11,13,17]. ...
