Pettigrew A L, Greenberg F, Caskey C T, Ledbetter D H
Institute for Molecular Genetics, Baylor College of Medicine, Houston, Texas.
Hum Genet. 1991 Aug;87(4):452-6. doi: 10.1007/BF00197167.
An 11-month-old infant with Greig cephalopolysyndactyly syndrome and mild developmental delay is described. High-resolution chromosomal analysis showed a de novo interstitial deletion of chromosome 7p with breakpoints located at p13 and p14. Cytogenetic analysis of polymorphisms of the heterochromatin in the pericentromeric region suggested the deleted chromosome was of paternal origin. This case confirms the localization of Greig syndrome to 7p13 and emphasizes the importance of performing cytogenetic studies on patients with Mendelian disorders who have unusual findings or cognitive abnormalities in a disorder usually associated with normal intellect. Review of clinical features in published reports of patients with a deletion involving 7p13 showed a number to have features overlapping with Greig syndrome. Because of this, we suggest that cytogenetic aberrations, particularly chromosomal microdeletions, may represent a significant etiology for Greig syndrome.
本文描述了一名患有Greig头多指综合征且伴有轻度发育迟缓的11个月大婴儿。高分辨率染色体分析显示7号染色体短臂存在新发的间质性缺失，断点位于p13和p14。对着丝粒周围区域异染色质多态性的细胞遗传学分析表明，缺失的染色体来自父方。该病例证实了Greig综合征定位于7p13，并强调了对患有孟德尔疾病且有异常发现或认知异常（通常与正常智力相关的疾病）的患者进行细胞遗传学研究的重要性。对已发表的涉及7p13缺失患者报告中的临床特征进行回顾发现，许多患者具有与Greig综合征重叠的特征。因此，我们认为细胞遗传学畸变，尤其是染色体微缺失，可能是Greig综合征的一个重要病因。
