Molecular cytogenetic analysis of a constitutional de novo interstitial deletion of chromosome 12p in a boy with developmental delay and congenital anomalies
Molecular cytogenetic analysis of a constitutional de novo interstitial deletion of chromosome 12p in a boy with developmental delay and congenital anomalies
复制标题
DOI：
10.1002/ajmg.a.10878
复制
发表时间：
2003-01-01
影响因子：
2
通讯作者：
Kehrer-Sawatzki, H
中科院分区：
文献类型：
--
作者：
Gläser, B;Rossier, E;Kehrer-Sawatzki, H
我们描述的情况下，6个月大的男孩与精神发育迟滞，颅面畸形，唇腭裂，以及听力和视力障碍。先证者染色体G带分析显示12号染色体短臂del（12）（p12.1p12.3）的从头间质缺失。使用细菌人工染色体（BAC）克隆的分子细胞遗传学分析来细化缺失的程度。缺失的片段包括标记D12 S1832和G62375之间的约12.5Mb。删除的表型后果进行了讨论，并与其他情况下近端染色体12 p的间质性缺失进行比较。(C)2002 Wiley-Liss，Inc.
We describe the case of a 6-month-old boy with psychomotor retardation, craniofacial dysmorphism, cleft lip and palate, as well as hearing and visual impairment. Analysis of G-banded chromosomes of the propositus showed a de novo interstitial deletion of the short arm of chromosome 12, del(12) (p12.1p12.3). Molecular cytogenetic analysis with bacterial artificial chromosomes (BAC) clones was used to refine the extent of the deletion. The deleted segment encompasses about 12.5 Mb between markers D12S1832 and G62375. The phenotypic consequences of the deletion are discussed and compared with other cases of interstitial deletions of proximal chromosome 12p. (C) 2002 Wiley-Liss, Inc.