2号染色体长臂间质性缺失，异柠檬酸脱氢酶水平正常。
Interstitial deletion of the long arm of chromosome 2 with normal levels of isocitrate dehydrogenase.
作者信息
Glass I A, Swindlehurst C A, Aitken D A, McCrea W, Boyd E
机构信息
Duncan Guthrie Institute of Medical Genetics, Royal Hospital for Sick Children, Yorkhill, Glasgow.
出版信息
J Med Genet. 1989 Feb;26(2):127-30. doi: 10.1136/jmg.26.2.127.
Abstract
We report a 16 year old boy with the abnormal karyotype 46,XY,del(2)(q32.2q33.1) who has mental retardation, microcephaly, epilepsy, craniofacial dysmorphism, distinctive scalloped skin pigmentation, and normal levels of isocitrate dehydrogenase.
摘要
我们报告一名16岁男孩，其核型异常为46,XY,del(2)(q32.2q33.1)，伴有智力发育迟缓、小头畸形、癫痫、颅面畸形、独特的扇形皮肤色素沉着以及异柠檬酸脱氢酶水平正常。
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