Department of Medical Genetics, Centro Médico Ecatepec, ISSEMYM, Mexico.
Gene. 2012 Dec 1;510(2):175-9. doi: 10.1016/j.gene.2012.08.041. Epub 2012 Sep 8.
Complete monosomy mosaic of chromosome 21 is a rare disorder. The syndromic features are highly variable. This study describes a girl of Mexican origin with complete monosomy 21 in mosaicism with novel findings, including cortical atrophy, macrostomia, pectum excavatum and immune deficiencies. Parental karyotypes were normal. FISH analysis with probes from 21q22.1-q22.2 region and centromere of X DNA probe was performed on peripheral blood lymphocytes whereas 21q22.1-q22.2 and 21q, 4p, 4q subtelomeric DNA probes were tested in fibroblasts. We propose that the monosomy 21 mosaicism is the cause of the survival of children with more than 4 months of age.
21 号染色体完全单体性嵌合体是一种罕见的疾病。其综合征特征具有高度可变性。本研究描述了一名墨西哥裔女孩，患有完全 21 号染色体单体性嵌合体，具有新颖的发现，包括皮质萎缩、巨口症、漏斗胸和免疫缺陷。父母的核型正常。对外周血淋巴细胞进行了来自 21q22.1-q22.2 区域和 X 染色体 DNA 探针着丝粒的 FISH 分析，而 21q22.1-q22.2 和 21q、4p、4q 端粒 DNA 探针则在成纤维细胞中进行了检测。我们提出，21 号染色体单体性嵌合体是导致年龄超过 4 个月的患儿存活的原因。
