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Trisomy 14 mosaicism is a rare chromosome disorder characterized by delayed development, failure to thrive, and facial dysmorphism. Only approximately 30 trisomy 14 mosaicism cases have been reported in the literature because trisomy 14 is associated with early spontaneous abortion. We report a case of a 17-month-old girl with abnormal skin pigment...
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... Table 1 summarizes the clinical characteristics of patients presenting with complete mosaic trisomy 14 described in the literature and those found in our patient. Flat broad nasal bridge 21/33 (63) + Hur and Hwang et al., 2012;Suzumori et al., 2015;Zhang et al., 2016, andSalas et al., 2014 online supplementary reference list: 1-4, 6, 9-11, 16, 17a, b, 20, 33a-e, 35 Low-set malformed ears 21/33 (63 -7, 9-11, 13, 16, 17a, b, 21, 24, 26, 30, 33a, b, d Hur and Hwang et al., 2012;Suzumori et al., 2015;Ushijima et al., 2018, andSalas et al., 2014 online supplementary reference list: 1, 3, 4, 6, 7, 9-13, 16, 17a, b, 20, 21, 24, 26, 33 b, d, e, 35 Extremity abnormalities 20/33 (61) + Eventov-Friedman et al., 2012;Rodrigues et al., 2016;Zhang et al., 2016, andSalas et al., 2014 online supplementary reference list: 2, 5-8, 9, 11, 13, 17b, 21, 24, 30, 33 b, c, e, 35 Genitourinary abnormalities 15/33 (45) + Rodrigues et al., 2016;Zhang et al., 2016, andSalas et al., 2014 online supplementary reference list: 4, 6, 7, 11, 13, 16, 17a, 20, 30, 33a, b, d, e Hip problems 6/33 (18 ...
... Table 1 summarizes the clinical characteristics of patients presenting with complete mosaic trisomy 14 described in the literature and those found in our patient. Flat broad nasal bridge 21/33 (63) + Hur and Hwang et al., 2012;Suzumori et al., 2015;Zhang et al., 2016, andSalas et al., 2014 online supplementary reference list: 1-4, 6, 9-11, 16, 17a, b, 20, 33a-e, 35 Low-set malformed ears 21/33 (63 -7, 9-11, 13, 16, 17a, b, 21, 24, 26, 30, 33a, b, d Hur and Hwang et al., 2012;Suzumori et al., 2015;Ushijima et al., 2018, andSalas et al., 2014 online supplementary reference list: 1, 3, 4, 6, 7, 9-13, 16, 17a, b, 20, 21, 24, 26, 33 b, d, e, 35 Extremity abnormalities 20/33 (61) + Eventov-Friedman et al., 2012;Rodrigues et al., 2016;Zhang et al., 2016, andSalas et al., 2014 online supplementary reference list: 2, 5-8, 9, 11, 13, 17b, 21, 24, 30, 33 b, c, e, 35 Genitourinary abnormalities 15/33 (45) + Rodrigues et al., 2016;Zhang et al., 2016, andSalas et al., 2014 online supplementary reference list: 4, 6, 7, 11, 13, 16, 17a, 20, 30, 33a, b, d, e Hip problems 6/33 (18 ...
Chromosomal trisomies are the most frequent major chromosomal anomalies in humans and can be present in a mosaic or a non-mosaic constitution. We report the first case of a newborn girl presenting with multiple congenital anomalies and a double mosaic trisomy involving chromosome 14 and the X chromosome detected by array CGH. Karyotype analysis revealed a double mosaic with 2 independent abnormal cell lines and the absence of 46,XX and 48,XXX,+14 cell lineages. The patient showed most of the clinical characteristics of mosaic trisomy 14. Analysis of autosomal DNA markers in the proband's blood sample did not support the presence of chimerism. Further analysis of chromosome X DNA markers suggests that the extra X chromosome most probably arose as a consequence of nondisjunction in meiosis II in the maternal lineage.
... Trisomy 14 mosaicism has been reported in approximately 30 patients (Additional file 1). The predominant symptoms of trisomy 14 mosaicism are prenatal and postnatal growth failure, ear abnormalities, congenital heart disease, developmental delay, and genitourinary abnormalities [4][5][6]. Maternal uniparental disomy of chromosome 14 (upd(14)mat) is a condition in which two copies of chromosome 14 are inherited from the mother [7,8]. Upd (14) mat is one of the genetic causes of Temple syndrome (OMIM 616222) and presents discernible clinical features such as pre-and postnatal growth failure, hypotonia, feeding difficulties, precocious puberty, and obesity [9]. ...
The predominant symptoms of trisomy 14 mosaicism are prenatal and postnatal growth failure, ear abnormalities, congenital heart disease, developmental delay, and genitourinary abnormalities. Maternal uniparental disomy of chromosome 14 (upd(14)mat) presents discernible clinical features such as prenatal and postnatal growth failure, hypotonia, precocious puberty, and obesity. Given the small number of previously reported patients with a combination of trisomy 14 mosaicism and upd(14)mat, the detailed clinical features of these patients remain to be elucidated. Here we report a severely short-statured girl with feeding difficulties and failure to thrive, ear abnormalities, deafness, small hands, and developmental delay. Karyotyping, FISH analysis, methylation analysis, and microsatellite marker analysis using her leukocytes and buccal cells showed that she had a combination of trisomy 14 mosaicism and upd(14)mat. Furthermore, a comparison of the clinical features of this patient with those of previously reported patients with genetic anomalies including the combination of trisomy 14 mosaicism and upd(14)mat or upd(14)mat suggested that the severe short stature observed in patients with a combination of trisomy 14 mosaicism and upd(14)mat stemmed from the synergic effect of these two events. In severely short-statured patients with trisomy 14 mosaicism, we should be aware of the possible coexistence of upd(14)mat.
... We report the case of a male neonate who presented complete trisomy 14 mosaicism in only 4% of the cells from peripheral blood, the same rate previously reported by Fujimoto et al. (1992) in a female patient. We compared the clinical manifestations of our case with 21 other cases of complete trisomy 14 mosaicism that have been described to date (Table 1*Rethoré et al. (1975); Martin et al. (1977); Johnson et al. (1979); Dallapiccola et al. (1984); Petersen et al. (1986); Kaplan et al. (1986); Lipson (1987); Vachvanichsanong et al. (1991); Fujimoto et al. (1992); Iglesias et al. (1997); Sepulveda et al. (1998); Lynch et al. (2004); Kunst and Gillbe (2005); Merritt and Natarajan (2007); McGaughran et al. (2009); Choi et al. (2012); Hur and Hwang (2012) ; Friedman et al. (2015); Suzumori et al. (2015); Balbeur et al. (2016). NR: not recorded. ...
Complete trisomy 14 mosaicism is a rare chromosome disorder and was first reported in 1970. We describe a case of a male neonate who presented complete trisomy 14 mosaicism in only 4% of the cells from peripheral blood. A nineteen-day-old male neonate was born as result of the second pregnancy. The infant was delivered by cesarean section due to gestational hypertension and chronic fetal distress. The length of the term pregnancy was 37 weeks, the birth weight was 3.105 g, the length was 48 cm, and the head circumference was 35.5 cm. The baby remained hospitalized for 19 days in the neonatal intensive care unit due to respiratory distress syndrome and congenital malformations. Physical examination revealed a toned and normal activity, followed by phenotypic changes such as a broader forehead, formation of a cleft 2 M.A. Rodrigues et al. Genetics and Molecular Research 15 (4): gmr15049275 palate, hypertelorism, low-set ears, bilateral cryptorchidism, absence of the second toe of the left foot (ectrodactyly), and fusion of third and fourth toes in the right foot (bilateral syndactyly). Cytogenetic analysis was performed on peripheral blood cultures after hospitalization in the neonatal intensive care unit. Analysis of 200 G-banded metaphases showed that 192 (96%) had normal karyotype 46,XY and only 8 (4%) presented trisomy 47,XY,+14. It was not possible to perform cytogenetic analysis on the patient's parents. Our patient represents the first case of trisomy 14 disorder to present ectrodactyly.
... Trisomy 14 mosaicism is a rare chromosomal abnormality with distinct and recognizable clinical features, including growth and psychomotor retardation, short neck, congenital heart defect, genitourinary abnormalities, body asymmetry, abnormal skin pigmentation and craniofacial dysmorphism [14]. So far, 42 live-born cases have been reported [15,16]. ...
Background
Both maternal uniparental disomy 14 (UPD(14)mat) and mosaic trisomy 14 are rare events in live individuals. A combination of the two events in one individual is rarely encountered. Only six live-born cases have so far been reported. Case presentationHere we reported a case of concomitant UPD(14)mat and mosaic trisomy 14 in a 10-year-old Chinese patient. Most clinical features of our patient were consistent with those previous reported for UPD(14)mat cases, which include prenatal and postnatal growth retardation, neonatal hypotonia, feeding difficulty, intellectual disability, truncal obesity, small hands and feet, short stature, and mild facial dysmorphism, but our patient showed more severe intellectual disability and no sign of precocious puberty. SNP array analysis revealed a mixture of chromosome 14 maternal isodisomy with heterodisomy and a low level trisomy mosaicism of whole chromsome 14 in blood and hyperpigmented skin samples, whereas only UPD(14)mat was detected in normal skin sample. Cytogenetic analysis identified one trisomy 14 cell in 100 metaphase of peripheral blood lymphocytes (47,XX, +14[1]/46,XX[99]). Conclusions
To our knowledge, this is the first case of a patient with UPD(14)mat and mosaic trisomy 14 reported in a Chinese patient. The definitive genetic diagnosis is beneficial for genetic counseling and clinical management of our patient, and for improving our understanding of the genotype-phenotype correlations of concomitant UPD(14)mat and mosaic trisomy 14.
... Copy number changes of chromosome 14 have also been implicated as a cause of developmental and health problems. 14,15) Mosaicism of trisomy 14 is one of the well-established causes of a genetic syndrome with variable phenotype; this synd rome has recurrent and cardinal features. Many reports indicate that most patients with mosaicism of trisomy 14 have growth retardation and some degree of developmental delay. ...
... Many reports indicate that most patients with mosaicism of trisomy 14 have growth retardation and some degree of developmental delay. 3,9,15) App roximately 60-90% patients have congenital heart defects, such as atrial or ventricular septal defects. 2,3,5,9,15) Common craniofacial dysmorphisms are prominent forehead, broad/short/or upturned nose, dysplastic and/or apparently low set ears, large mouth, micrognathia, and short neck. ...
... 3,9,15) App roximately 60-90% patients have congenital heart defects, such as atrial or ventricular septal defects. 2,3,5,9,15) Common craniofacial dysmorphisms are prominent forehead, broad/short/or upturned nose, dysplastic and/or apparently low set ears, large mouth, micrognathia, and short neck. 2,3,5,9) Another frequent finding is abnormal skin-pigmentation. ...
Mosaic trisomy 14 syndrome is a well-known but unusual chromosomal abnormality with a distinct and recognizable phenotype. Array comparative genomic hybridization (CGH) analysis has recently become a widely used method for detecting DNA copy number changes, in place of traditional karyotype analysis. However, the array CGH shows a limitation for detecting the low-level mosaicism. Here, we report the detailed clinical and cytogenetic findings of patient with low-frequency mosaic trisomy 14, initially considered normal based on usual cut-off levels of array CGH, but confirmed by G-banding karyotyping. Our patient had global developmental delay, short stature, congenital heart disease, craniofacial dysmorphic features, and dark skin patches over her whole body. Estimated mosaicism proportion was 23.3% by G-banding karyotyping and 18.0% by array CGH.
Mosaicism for trisomy of chromosome 14 (T14) is a very rare chromosomal disease in liveborn patients. Since the 1970s, when the first patients with mosaicism for T14 were reported, a number of studies on the clinical manifestations of this abnormality have been published. No information on epidemiological parameters was known except for the rarity of the disease and its predominance among female carriers. This was the first systematic review of published cases of mosaic T14 that addressed some epidemiological aspects of this abnormality. We conducted a literature review and collected information on 194 cases of regular T14 and only two cases of mosaic T14 among 21,082 tested spontaneous abortuses. Thus, the rates of nonmosaic T14 and mosaic T14 were 0.9% and 0.09‰, respectively. Additionally, we identified 76 carriers of mosaic T14, diagnosed prenatally and postnatally. Among them, there were 50 carriers of mosaicism for regular T14, 21 carriers of mosaicism due to unbalanced homologous translocation/isochromosome, and five carriers of mosaicism for unbalanced non-homologous Robertsonian translocation involving chromosome 14. The most significant findings were as follows. i) The unexplained fourfold
Mosaicism for trisomy of chromosome 14 (T14) is a very rare chromosomal disease in liveborn patients. Since the 1970s, when the first patients with mosaicism for T14 were reported, a number of studies on the clinical manifestations of this abnormality have been published. No information on epidemiological parameters was known except for the rarity of the disease and its predominance among female carriers. This was the first systematic review of published cases of mosaic T14 that addressed some epidemiological aspects of this abnormality. We conducted a literature review and collected information on 194 cases of regular T14 and only two cases of mosaic T14 among 21,082 tested spontaneous abortuses. Thus, the rates of nonmosaic T14 and mosaic T14 were 0.9% and 0.09‰, respectively. Additionally, we identified 76 carriers of mosaic T14, diagnosed prenatally and postnatally. Among them, there were 50 carriers of mosaicism for regular T14, 21 carriers of mosaicism due to unbalanced homologous translocation/isochromosome, and five carriers of mosaicism for unbalanced non-homologous Robertsonian translocation involving chromosome 14. The most significant findings were as follows. i) The unexplained fourfold
