Two children with partial trisomy for 7p.
نویسندگان
چکیده
A second family in which a balanced translocation between 7p and 22q is segregating is described. The clinical features of 2 children with a resulting partial trisomy for 7p are described and compared with the previously described case.
منابع مشابه
Partial trisomy 7p associated with familial 7p;22q translocation.
A newly described partial trisomy of the short arm of chromosome number 7 is reported in a familial translocation between 7 and 22. The unbalanced translocation was found in one family member, the propositus, and the balanced form in 5 other members. The possibility of this translocation being a rare telomeric attachment previously undescribed in humans is discussed. Prominent clinical features...
متن کاملA malformed child with a recombinant chromosome 7, rec(7) dup p, derived from a maternal pericentric inversion inv(7)(p15q36).
We report a child with facial dysmorphic features, hypoplasia of the external genitalia, intestinal malrotation, congenital cardiac defect, and minor limb anomalies. Chromosome studies showed a recombinant chromosome 7, rec(7) dup p, resulting from a maternal pericentric inversion inv(7)(p15 q36). Thus, this child had partial trisomy 7p in addition to a small distal monosomy 7. The clinical fin...
متن کاملPartial trisomy 7 (q32----qter) syndrome in two children.
Two unrelated children are described with a partial trisomy 7 (q32----qter). Their phenotypes are compared with other reported cases with both this trisomy and others of the 7q arm. Several apparently useful pathognomonic features are distinguished. The phenotypic variability between trisomic persons within and between families is discussed. It is suggested that the disparate monosomies always ...
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 کاملPrenatal Identification and Molecular Characterization of Two Simultaneous De Novo Interstitial Duplications of Chromosomal Regions 7p22.1p21.1 and 15q24.1
The occurrence of simultaneous de novo chromosomal aberrations is extremely rare. Here, we describe two, previously unreported, simultaneous de novo interstitial duplications of chromosomes 7p and 15q. Amniocentesis was completed for a healthy gravida 4 para 3 woman due to her advanced maternal age and concurrent ultrasound findings of partial vermian agenesis, choroid-plexus cysts, and hypopla...
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ورودعنوان ژورنال:
- Journal of medical genetics
دوره 16 4 شماره
صفحات -
تاریخ انتشار 1979