一名新生儿患有 Pelger-Huët 异常、唇腭裂和胼胝体发育不全，伴有涉及 1q41 到 1q42.12 的染色体微缺失。
A neonate with the Pelger-Huët anomaly, cleft lip and palate, and agenesis of the corpus callosum, with a chromosomal microdeletion involving 1q41 to 1q42.12.
机构信息
Department of Women and Newborns, Intermountain Healthcare, Salt Lake City, UT 84403, USA.
出版信息
J Perinatol. 2012 Mar;32(3):238-40. doi: 10.1038/jp.2011.119.
PMID:22370897
Abstract
We observed a neonate with cleft lip and palate, 13 sets of ribs, agenesis of the corpus callosum, slightly small penis, hypoglycemia, and what initially appeared to be a marked leukocyte 'left shift' on complete blood count, but which was actually a Pelger-Huët anomaly. A chromosomal microdeletion was identified at1q41-42.12.
摘要
我们观察到一名新生儿患有唇腭裂、13 对肋骨、胼胝体发育不全、阴茎略小、低血糖，以及全血细胞计数最初似乎显示明显的白细胞“左移”，但实际上是Pelger-Huët 异常。在 1q41-42.12 处鉴定出染色体微缺失。
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