Chromosomal aberrations in 85 mentally retarded patients examined by high resolution banding
作者:
Carola Tengstrqm,
Seppo Autto,
期刊:
Clinical Genetics
(WILEY Available online 1987)
卷期:
Volume 31,
issue 1
页码: 53-60
ISSN:0009-9163
年代: 1987
DOI:10.1111/j.1399-0004.1987.tb02767.x
出版商: Blackwell Publishing Ltd
关键词: Chromosomal aberrations;dysmorphism;high resolution banding;mental retardation
数据来源: WILEY
摘要:
Eighty‐five mentally retarded patients had their chromosomes examined by using the high resolution banding techniques. Fifty‐nine of them had multiple congenital anomalies and/or dysmorphic features. Twenty‐six had mental retardation but no major anomalies; they were primarily suspected of having the fragile X syndrome. This suspicion was first excluded. Fifteen patients were found to have a chromosome aberration, interpreted as clinically significant. Eleven of them had been examined earlier by conventional methods. The aberrations found were divided into three groups: (I) those detectable with an accuracy of ca. 300–400 bands (N = 4), (II) those detectable with an accuracy of ca. 400–550 bands (N = 6) and (III) those detectable with an accuracy of ca. 550–850 bands (N = 5). The aberrations are described an
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