A neonate with the Pelger-Huet anomaly, cleft lip and palate, and agenesis of the corpus callosum, with a chromosomal microdeletion involving 1q41 to 1q42.12

作者：Christensen R D^*; Yaish H M

来源：Journal of Perinatology, 2012, 32(3): 238-240.

DOI：10.1038/jp.2011.119

• cleft lip and palate
• Pelger-Huet
• microdeletion

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-Huet anomaly. A chromosomal microdeletion was identified at1q41-42.12. Journal of Perinatology (2012) 32, 238-240; doi: 10.1038/jp.2011.119

• 出版日期2012-3