Ring chromosome 7 in a man with multiple congenital anomalies and mental retardation.
نویسندگان
چکیده
منابع مشابه
Ring chromosome 7 in a man with multiple congenital anomalies and mental retardation.
A 39 year old male with multiple dysmorphic features was found to have an unstable ring chromosome 7. Clinical findings are presented and compared with the other five reported cases of ring chromosome 7. The main characteristics found in patients with this chromosome constitution are prenatal onset growth deficiency, bone anomalies, pigmentary or vascular skin changes, and ocular and genital an...
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A ring chromosome 8 was found in peripheral blood cells in a boy, whose chromosomes were studied because of multiple congenital anomalies. Examination of skin cells revealed a 46,XY/46,XY,8r pattern. Application of several banding techniques suggested a duplication of the most distal bands of both arms in the ring. The terminal end of 8q appeared to have been retained as could be shown by R-ban...
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Ring chromosomes have now been observed in all except one group of the human karyotype, though, as yet, a syndrome has not been recognized which is characterized by the presence of a ring. Ring chromosomes have been observed in group A (Gordon and Cooke, 1964), in group B (Rohde and Tompkins, 1965), in group C (Lindsten and Tillinger, 1962; Turner et al., 1962; Luers, Struck, and Nevinny-Sticke...
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In the past 12 years 800 children with mental retardation or with cerebral palsy have been seen in the Children's Hospital, Sheffield, by the Department of Child Health. While looking through punch-card summaries of these cases, it became obvious that there was a much higher incidence of associated congenital anomalies in children with mental retardation without cerebral palsy than in those wit...
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Ring chromosome 6, especially if it is de novo, is a rare occurrence. The phenotype of patients with ring chromosome 6 can be highly variable ranging from almost normal to severe malformations and mental retardation. The size and structure of the ring chromosome as well as the level of mosaicism are important factors in determining the clinical phenotype. Here we report an eight month-old child...
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ژورنال
عنوان ژورنال: Journal of Medical Genetics
سال: 1990
ISSN: 1468-6244
DOI: 10.1136/jmg.27.7.462