半侧颜面短小畸形与22号染色体异常

Hemifacial microsomia and abnormal chromosome 22.

作者信息

Hathout E H, Elmendorf E, Bartley J

机构信息

Department of Pediatrics, Loma Linda University School of Medicine and Children's Hospital, California 92354, USA.

出版信息

Am J Med Genet. 1998 Feb 26;76(1):71-3. doi: 10.1002/(sici)1096-8628(19980226)76:1<71::aid-ajmg13>3.0.co;2-m.

DOI:10.1002/(sici)1096-8628(19980226)76:1<71::aid-ajmg13>3.0.co;2-m

PMID:9508069

Abstract

We report on partial dup(22q), growth deficiency, and the facioauriculovertebral sequence including hemifacial microsomia, cleft lip and palate, preauricular tags, and hearing loss in one patient. No endocrine or systemic cause for growth deficiency was identified. The case illustrates applicability of chromosome analysis in syndrome-associated growth failure, and a previously unreported associated chromosome abnormality.

摘要

我们报告了1例患者存在22号染色体长臂部分重复、生长发育迟缓以及面耳椎序列异常，包括半侧颜面短小、唇腭裂、耳前赘生物和听力损失。未发现导致生长发育迟缓的内分泌或全身性病因。该病例说明了染色体分析在综合征相关生长发育障碍中的应用，以及一种此前未报道的相关染色体异常。