一名中度精神发育迟滞女孩存在r(22)(p11导致q13)异常。
An r(22)(p11 leads to q13) in a moderately mentally retarded girl.
作者信息
Aller V, Abrisqueta J A, de Torres M L, Martín-Lucas M A, Pérez-Castillo A, Del Mazo J
出版信息
Hum Genet. 1979 Oct 1;51(2):157-62. doi: 10.1007/BF00287170.
PMID:511142
Abstract
An r(22) was detected in a 6-year-old female patient with growth retardation, IQ of 45, and a lower quotient for verbal performance. She presents some other minor anomalies. The break and fusion points probably were at p11 and q13.
摘要
在一名6岁女性患者中检测到r(22)，该患者生长发育迟缓，智商为45，语言能力商数较低。她还存在一些其他轻微异常。断裂和融合点可能位于p11和q13。
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