因染色体数目异常导致的前脑无裂畸形。
Holoprosencephaly due to numeric chromosome abnormalities.
机构信息
National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA.
出版信息
Am J Med Genet C Semin Med Genet. 2010 Feb 15;154C(1):146-8. doi: 10.1002/ajmg.c.30232.
Abstract
Holoprosencephaly (HPE) is the most common malformation of the human forebrain. When a clinician identifies a patient with HPE, a routine chromosome analysis is often the first genetic test sent for laboratory analysis in order to assess for a structural or numerical chromosome anomaly. An abnormality of chromosome number is overall the most frequently identified etiology in a patient with HPE. These abnormalities include trisomy 13, trisomy 18, and triploidy, though several others have been reported. Such chromosome number abnormalities are almost universally fatal early in gestation or in infancy. Clinical features of specific chromosome number abnormalities may be recognized by phenotypic manifestations in addition to the HPE.
摘要
无脑回畸形（HPE）是人类前脑最常见的畸形。当临床医生发现 HPE 患者时，通常会首先进行常规染色体分析，以便评估是否存在结构性或数量性染色体异常。在 HPE 患者中，染色体数量异常是最常见的病因。这些异常包括三体 13、三体 18 和三倍体，但也有其他报道。这些染色体数量异常几乎在妊娠早期或婴儿期就会导致普遍致命。除了 HPE 之外，特定染色体数量异常的临床特征还可以通过表型表现来识别。
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