一名患有斑驳性状的智力发育迟缓男孩因母亲的插入，即插入（8；4），导致4号染色体间质缺失，del(4)(q12q21.1) 。
Interstitial deletion of chromosome 4, del(4)(q12q21.1), in a mentally retarded boy with a piebald trait, due to maternal insertion, ins(8;4).
作者信息
Fujimoto A, Reddy K S, Spinks R
机构信息
Department of Pediatrics, Los Angeles County-University of Southern California Medical Center 90033, USA.
出版信息
Am J Med Genet. 1998 Jan 6;75(1):78-81. doi: 10.1002/(sici)1096-8628(19980106)75:1<78::aid-ajmg16>3.0.co;2-p.
A 17-year-old boy who was diagnosed with "Waardenburg syndrome" showed moderate growth and mental retardation. Chromosome analysis showed an apparent interstitial deletion 4q12q21.1. The mother had a direct insertion of the deleted segment into a chromosome 8. The rearrangement was confirmed to be nonreciprocal and an insertion by in situ hybridization using whole chromosome 4 and 8 painting probes. The mother's karyotype is 46,XX,ins(8;4)(q21.2;q12q21.1); that of the propositus is 46,XY, der(4)ins(8;4)(q21.2;q12q21.1)mat. This is the first report of an inherited proximal 4q deletion.
一名被诊断患有“瓦登伯革氏综合征”的17岁男孩表现出中度生长发育迟缓和智力发育迟缓。染色体分析显示明显的4q12q21.1间质性缺失。母亲有一个将缺失片段直接插入8号染色体的情况。通过使用全染色体4和8绘画探针的原位杂交证实该重排是非相互的且为插入。母亲的核型是46,XX,ins(8;4)(q21.2;q12q21.1)；先证者的核型是46,XY, der(4)ins(8;4)(q21.2;q12q21.1)mat。这是遗传性近端4q缺失的首例报告。
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