Two siblings with partial trisomy 15 and monosomy 21 associated with central nervous system anomalies.
نویسندگان
چکیده
A sister and a brother with 46, XX (46, XY), -21, +der (15) (q22.1; q22.1) mat were reported whose mother had a karyotype of 46, XX, t(15; 21)(q22.1; 22.1) and was phenotypically normal. Both sibs were mentally retarded and dysmorphic. Moreover, the sister had a holoprosencephaly with congenital hydrocephalus, and the brother showed congenital hydrocephalus.
منابع مشابه
The clinical phenotype of the derivative (8)t(7;8)(q22;p23.3) in two siblings
Trisomy 7q or 7q duplication has been described with specific craniofacial dysmorphic features and clinical manifestations, since the chromosomal abnormality was first described by Vogel et al. in 1973 1, 2) . But, trisomy 7p syndrome rarely originates de novo; it usually results from a parental balanced translocation, which alters the phenotype attributable to trisomy7q. Here we report on two ...
متن کاملعقبماندگی ذهنی مرتبط با ناهنجاری کروموزومی در یک خانواده ایرانی: گزارش سه مورد
Background: Mental retardation is defined as impaired mental capacity and ability to comply with environmental and social conditions. Chromosomal abnormalities are the most important causes of mental retardation. Carriers of balanced chromosomal translocation are phenotypically normal, although they may be at risk of infertility, recurrent miscarriage or giving birth to mentally retarded childr...
متن کاملMosaic and partial monosomy of chromosome 21 in a case with low platelets count
Background Monosomy is defined as the presence of only one chromosome instead of two in humans. Partial monosomy occurs when only a portion of the chromosome is present in a single copy, while the rest has two copies. It can occur in unbalanced translocations or deletions. Case report In this report, a 6 years old girl was presented who was referred to the Pediatric Dep, Shahid Sadoughi Ho...
متن کاملTrisomy 13, 18, 21, Triploidy and Turner syndrome: the 5T’s. Look at the hands
First trimester spontaneous abortions occur in 15 to 20% of all clinically recognized pregnancies. Chromosomal -anomalies are responsible for more than 50% of spontaneous abortions. The majority (90%) of these chromosomal anomalies are numerical, particularly autosomal trisomies (involving chromosomes 13,16, 18, 21, 22), polyploidy and monosomy X. At birth chromosomal anomalies are still an imp...
متن کاملSimultaneous partial monosomy 10p and trisomy 5q in a case of hypoparathyroidism.
We report a case of monosomy for the distal region of the short arm of chromosome 10 (p13----ter) associated with trisomy for the terminal region of the long arm of chromosome 5 (q35.2----ter) that had originated from adjacent 1 segregation of a maternal reciprocal balanced translocation (5;10)(q35.2;p13). We review the clinical findings of previously reported cases of both partial monosomy for...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
عنوان ژورنال:
- The Tohoku journal of experimental medicine
دوره 171 4 شماره
صفحات -
تاریخ انتشار 1993