一名患有智力障碍的先证者中位于2q13的常染色体脆性位点。
Autosomal fragile site at 2q13 in a proband with mental retardation.
作者信息
Kumada T, Kadotani T, Kanata S, Watanabe Y, Kurosaki N, Toi O
机构信息
Department of Psychiatry, National Sanatorium Kamo Hospital, Hiroshima, Japan.
出版信息
Hiroshima J Med Sci. 1990 Mar;39(1):19-21.
PMID:2373639
Abstract
Folate sensitive fragile site on chromosome 2q13 was detected in a female proband with mild hypertrichosis, negativism, speech disorder, and severe mental retardation. The same chromosomal aberration was also detected in her mother with normal phenotype. Spontaneous expression of fragile site on 2q13 was also observed.
摘要
在一名患有轻度多毛症、逆反行为、言语障碍和严重智力迟钝的女性先证者中检测到2号染色体q13上的叶酸敏感脆性位点。在表型正常的母亲中也检测到了相同的染色体畸变。还观察到2q13上脆性位点的自发表达。
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