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Karyotype of the child with 48,XXY,+21. The long arrows indicate chromosomes X, the short arrows indicate chromosomes 21, and the shortest arrow indicates chromosome Y.
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The occurrence of double aneuploidy in the one person is a relatively rare phenomenon. A 5-year-old child, the second-born of non-consanguineous parents, possessed an extra X chromosome in addition to trisomy 21. The proband's parents and his brother showed normal karyotype. The phenotypic characteristics of the child have been discussed in light o...
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Klinefelter syndrome is the most common chromosomal aneuploidy in men (XXY karyotype, 1 in 600 live births) and results in testicular (infertility and androgen deficiency) and nontesticular (cognitive impairment and osteoporosis) deficits. The extent to which skeletal changes are due to testosterone deficiency or arise directly from gene overdosage...
Due to the high prevalence and variable phenotype of patients with Klinefelter syndrome, there is a need for a robust and rapid screening method allowing early diagnosis. Here, we report on the development and detailed clinical validation of a quantitative real-time PCR (qPCR)-based method of the copy number assessment of the androgen receptor (AR)...
Citations
... Klinefelter/Down syndrome [1] 48,XXY,+21 Klinefelter/Down syndrome [19] 48,XXY,+21 Klinefelter/Down syndrome [20] 48,XXY,+21 Klinefelter/Down syndrome [21] 48,XXY,+21 Klinefelter/Down syndrome [22] 48,XXY,+21 Klinefelter/Down syndrome [23] 48,XXY,+21 Klinefelter/Down syndrome [24] 48,XXY,+21 Klinefelter/Down syndrome [25] 48,XXY,+21 Klinefelter/Down syndrome [26] 48,XXY,+21 Klinefelter/Down syndrome [27] 47,XXY/48,XXY,+21 Klinefelter/Down syndrome-mosaic [28] 48,XXY,+21 Klinefelter/Down syndrome [29] 48,XXY,+21 Klinefelter/Down syndrome [14] 48,XXY,+21 Klinefelter/Down syndrome [30] 48,XXY,+21 Klinefelter/Down syndrome [31] 48,XXY,+21 Klinefelter/Down syndrome [32] 48,XXY,+21 Klinefelter/Down syndrome [33] 48,XXY,+21 Klinefelter/Down syndrome [34] 48,XXY,+21 Klinefelter/Down syndrome [8] 48,XXY,+21 Klinefelter/Down syndrome [15] 48,XXY,+21 Klinefelter/Down syndrome [7] 48,XXY,+21 Klinefelter/Down syndrome [14] 48,XXY,+21 Klinefelter/Down syndrome [35] 48,XXY,+21 Klinefelter/Down syndrome [36] ...
Aneuploidy is a category of chromosomal abnormalities involving a numerical abnormality of the chromosomes. The most common type seen in live-born babies is trisomy. Double aneuploidy that leads to trisomy of two different chromosomes occurs due to accidental meiotic nondisjunction events; both can have the same or a different parental origin. Other frequently found double aneuploidies include 48,XXX,+21; 48,XXY,+18, and 48,XXX,+18. Here, we report the case of double aneuploidy (Down-Klinefelter syndrome) in a Saudi newborn with the clinical features of Down syndrome, along with hypothyroidism and congenital heart disease, who was admitted to our neonatal intensive care unit. To our knowledge, this is the first case of its kind reported from the Kingdom of Saudi Arabia.
... These disorders individually are common causes of aneuploidy, but the incidence of both disorders in the same individual (double aneuploidy) is a rare occurrence [5]. These individuals may be suspected clinically as they may have characteristic dysmorphic features, developmental delay, intellectual disability and congenital anomalies [7]. Ultrasonography and echocardiography may assist [8]. ...
... common sex chromosome aneuploidy [7]. The exact mechanism of their occurrence together as a double aneuploidy is not clearly known. ...
Chromosomal abnormalities may result from a change in the chromosome number. These abnormalities may involve the auto-somal chromosomes or the sex chromosomes. These may result in spontaneous abortions but major chromosomal abnormalities have been identified in live births. These individuals are usually identified early in life as they suffer from a number of congenital anomalies. Down syndrome and Klinefelter syndrome are most prevalent among autosomal and sex-linked chromosomal abnormalities , respectively. However, their occurrence together is a rare phenomenon. Few cases have been reported from around the world. These patients may present with variable clinical features, of which congenital heart disease is a common presentation. Karyotyping is a definitive diagnostic modality. Here we report a rare case of double aneuploidy, Down-Klinefelter syndrome, the first case in our population. This 13-month baby with characteristic somatic abnormalities and congenital heart disease presented for cytogenetic analysis, which showed karyotype to be 48, XXY, +21. Parents and siblings were found to have a normal karyotype.
... Así, finalmente se puede concluir que la literatura hasta el momento ha demostrado que una falta de recombinación en la profase de la meiosis predispone a la no disyunción posterior. Desde otro ángulo existe la teoría de la asociación de la edad materna avanzada y mayor riesgo de trisomía, por lo que se habla de una "competencia inmunológica" (28). ...
El síndrome de Down y el síndrome de Klinefelter son los trastornos más comunes de los cromosomas autosómicos y sexuales respectivamente. Sin embargo, la existencia de las dos anormalidades en un mismo individuo es una anomalía poco frecuente. Este artículo tiene como objetivo documentar un caso de doble aneuploidía: síndrome de Down-Klinefelter; así mismo, realizar una revisión sistemática de la alteración, factores relacionados y las manifestaciones frecuentemente presentadas. Aquí se presenta el caso de unapaciente de 39 años con embarazo de 16 semanas de gestación con alto riesgo por edad materna avanzada y con antecedente de síndrome de Down por línea paterna; a quien se le indica amniocentesis para realización de cariotipo y se obtiene un resultado de 48, XXY, + 21 [20]. Agregado a esto, se realiza asesoramiento genético a los padres, no obstante, se pierde la gestación espontáneamente en la semana 20. Según la literatura, la doble aneuploidía Down-Klinefelter está estrechamente relacionada a la edad materna como principal factor de riesgo. Además, se menciona un solapamiento de las condiciones; normalmente, son predominantes las características fenotípicas del síndrome de Down. Finalmente, será fundamental realizar un cariotipo en cualquier paciente que presente síndrome de Down, para verificar que no exista asociación a otros síndromes y un acompañamiento durante la vida será de gran importancia
... On the contrary, the combination of DS and Turner syndrome is very rare (estimated frequency is 1 in 2,000,000) (3)(4)(5)(6)(7). Translocation type DS constitutes about 5% of all down syndromes but DS with translocation not including chromosome 21 is quite rare (1). ...
... In double aneuploidy cases, at early ages, the clinical picture is completely compatible with the autosomal chromosome aneuploidy. This is mainly due to the observation of the phenotypic effects of sex chromosomal aneuploidies in the post pubertal period (2)(3)(4)10,11). In our patient 1, we observed many DS stigmata's such as upslant palpebral fissures, brachycephaly and epicanthus. ...
In the present paper, we report two rare cases of Down syndrome (DS); mosaic Down-Turner syndrome and DS with rob (13;14). Patient 1 karyotype is mos 45,X[41] / 47, XX,+21[59] and patient 2 karyotype is 46, XY, rob (13;14)(q10;q10),+21. With these two unusual cases, we aimed to look at the most common numerical and structural chromosome anomalies from a different window and evaluate the phenotypic effect in the presence of different chromosomal anomalies. Our main goal is to evaluate the phenotypic characteristics of these two rare variants in the light of literature.
... The occurrence of double and multiple aneuploidies in humans is a relatively rare event. Most cases reported are sexual chromosomal aneuploidies combined with trisomy 21 [35,36]. The mechanism that originates these types of aneuploidies is unclear. ...
... Refrac�ve anomalies in pa�ents with Down syndrome are very common and their incidence vary from 65% to 100% 31 anomalies in pa�ents with Down syndrome. In this study, refrac�ve errors occurred in over half of the popula�on of the children with Down syndrome examined. ...
... This supports the study by Adio et al. 21 , where more than half (76.2%)of the 42 children with Down syndrome screened had refrac�ve errors, also further suppor�ng this finding are results in similar studies conducted within and outside Nigeria 8,9,31,32 . ...
Down syndrome (DS) or Down's syndrome, also known as trisomy 21, is a gene�c disorder caused by the presence of all or part of a third copy of chromosome 21. It is the most common chromosomal abnormality in humans 1 , occurring in about 1 per 1000 babies born each year. The incidence is es�mated to be about 1 in 600 live births 2. It occurs in people of all races and economic levels, though older women have an increased risk of having a child with Down syndrome but the cause of non-disconjuc�on is s�ll unknown 3. This condi�on is typically associated with physical growth delays, characteris�c facial features and mild to moderate intellectual disabili�es 4. In recent history, advances in medicine and science have enabled researchers to inves�gate the characteris�cs of people with Down syndrome. About 60% of people JNOA.2018;20(2): 15-22 Down syndrome is the most common chromosomal disorder and many with the condi�on tend to be more at risk of several ocular disorders than those without Down syndrome. The study was aimed at assessing the distribu�on of refrac�ve errors in children with Down syndrome between 5-18 years of age. The cross-sec�onal study used data from 104 children with Down syndrome from selected exclusive special needs schools in Lagos State, Nigeria. Visual acuity was measured using the Lea symbol chart and non-cycloplegic refrac�on was carried out using both sta�c re�noscopy and autorefrac�on. Significant refrac�ve error was defined as myopia, hyperopia and as�gma�sm of 0.75D and above respec�vely. Data was analysed using IBM SPSS sta�s�cal so�ware version 20.1. Chi-square and independent t test were used to test the hypotheses. A total of 91 children with Down syndrome were examined; 52 (57.1%) were males with a mean age of 13.6 +3.8 years. The study showed that refrac�ve errors was present in 82 (95.3%) of the par�cipants, with as�gma�sm being the commonest form of refrac�ve error occurring in 61(67%) followed by hyperopia 12(13.2%) and myopia 7(7.7%) of the 91 par�cipants studied. The study also supported the null hypothesis that there is no significant difference between the types of refrac�ve error and gender (p=0.8331). Recorded visual acui�es also revealed a generalised reduced visual acuity which significantly improved with best op�cal correc�on (p <0.001). This study indicates the need for people with Down syndrome to be provided with prompt eye care services. Abstract Introduction
... Refrac�ve anomalies in pa�ents with Down syndrome are very common and their incidence vary from 65% to 100% 31 anomalies in pa�ents with Down syndrome. In this study, refrac�ve errors occurred in over half of the popula�on of the children with Down syndrome examined. ...
... This supports the study by Adio et al. 21 , where more than half (76.2%)of the 42 children with Down syndrome screened had refrac�ve errors, also further suppor�ng this finding are results in similar studies conducted within and outside Nigeria 8,9,31,32 . ...
Down syndrome is the most common chromosomal disorder and many with the condition tend to be more at risk of several ocular disorders than those without Down syndrome. The study was aimed at assessing the distribution of refractive errors in children with Down syndrome between 5-18 years of age. The cross-sectional study used data from 104 children with Down syndrome from selected exclusive special needs schools in Lagos State, Nigeria. Visual acuity was measured using the Lea symbol chart and non-cycloplegic refraction was carried out using both static retinoscopy and autorefraction. Significant refractive error was defined as myopia, hyperopia and astigmatism of 0.75D and above respectively. Data was analysed using IBM SPSS statistical software version 20.1. Chi-square and independent t test were used to test the hypotheses. A total of 91 children with Down syndrome were examined; 52 (57.1%) were males with a mean age of 13.6 +3.8 years. The study showed that refractive errors was present in 82 (95.3%) of the participants, with astigmatism being the commonest form of refractive error occurring in 61(67%) followed by hyperopia 12(13.2%) and myopia 7(7.7%) of the 91 participants studied. The study also supported the null hypothesis that there is no significant difference between the types of refractive error and gender (p=0.8331). Recorded visual acuities also revealed a generalised reduced visual acuity which significantly improved with best optical correction (p <0.001). This study indicates the need for people with Down syndrome to be provided with prompt eye care services.
... Occurrence of double aneuploidy in live born is comparatively rare phenomenon in human population as compared to higher percentage in spontaneous abortions (Cyril et al., 2005;Karaman and Kabolar, 2008). The patients with double aneuploidy may have manifestations of both chromosomal abnormalities. ...
... We report a case of double aneuploidy consisting of trisomy 21 and XXY. The patient showed typical clinical manifestations of Down syndrome; which is consistent with other published reports (Karaman and Kabolar, 2008;Eid et al., 2009;Kovaleva and Mutton, (2005). The real causes of aneuploidies are not well understood, meiotic non-disjunction has been suggested as most frequent cause of chromosomal abnormalities. ...
The occurrence of double aneuploidy in single individual is relatively rare phenomenon. A 12 – month old child has an extra X chromosome in addition to trisomy 21. The phenotypic characteristics of child were similar to Down syndrome. Cytogenetic finding revealed 48,XXY, +21 karyotype. Results have been discussed in light of published case reports on double aneuploidies of XXY, +21.
... If error occurs during meiosis-I the gamate with 24 chromosomes contains both the paternal and maternal members of the pair. If occurs during meiosis-II the gamate with the extra chromosome contains both copies of either paternal or maternal chromosome [9]. On the other hand, trisomy-18 can originate in either of the divisions in both parents. ...
Edward syndrome is rare in live births in comparison to most common Down and Patau syndromes. The estimated incidences are one in 6000 live births and interestingly 70 to 80% those affected are females. The occurrence of double aneuploidy involving XXY + 18 is very rare in live born however, most of cases are available with spontaneous abortions. Here, we report a 07 day a male infant with typical features of Edward syndrome such as microcephaly and low set of ears having mosaic double aneuploidy with Klinfelter syndrome.
... El primer informe de doble aneuploidía de XXY y trisomía 21 fue el de Ford y colaboradores en 1959; desde entonces se ha reportado una serie de casos con esta rara asociación. 2,3 ...
The occurrence of double aneuploidy in one person is a relatively rare phenomenon. We report the case of a 7-month-old child, the third-born of non-consanguineous parents, with clinical features of Down syndrome and karyotype 48XXY.
