Down syndrome child with 48,XXY,+21 karyotype
نویسنده
چکیده
Cytogenetic analysis in 60 clinically suspected cases of Down syndrome and their parents was carried out using conventional Giemsa–trypsin-banding technique. Fifty-five individuals (91%) exhibited a free trisomy 21. Robertsonian translocations were seen in three cases and two cases exhibited a normal karyotype. A four-month-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 a normal karyotype. The phenotypic characteristics of this child have been discussed in the light of the published reports on double aneuploidies of XXY and trisomy 21.
منابع مشابه
Down-Klinefelter syndrome (48,XXY,+21) in a neonate associated with congenital heart disease.
Double aneuploidy is considered a rare phenomenon. Herein, we describe a case of double aneuploidy 48,XXY,+21 in a neonate with congenital heart defects. The 28-day-old neonate male (23-year-old mother and 24-year-old father) was admitted to a neonatal intensive care unit owing to congenital heart disease. Echocardiography showed a complete atrioventricular septal defect with Rastelli type B an...
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Three cases with 48,XYY,21 + karyotype have been reported (B. R. Migeon, personal communication; Verresen and van den Berghe, 1965; Uchida, Ray, and Duncan, 1966) and the patients in these cases have presented with the classical features of Down's syndrome. The purpose of this communication is to report another such case discovered as the result of the evaluation of an infant for possible Down'...
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