Literature DB >> 22370897

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.

R D Christensen1, H M Yaish.   

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.

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Year:  2012        PMID: 22370897     DOI: 10.1038/jp.2011.119

Source DB:  PubMed          Journal:  J Perinatol        ISSN: 0743-8346            Impact factor:   2.521


  2 in total

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Authors:  Jiacheng Hu; Mingming Xu; Xiaobo Zhu; Yu Zhang
Journal:  Genes (Basel)       Date:  2022-05-02       Impact factor: 4.141

2.  ASPP2 deficiency causes features of 1q41q42 microdeletion syndrome.

Authors:  J Zak; V Vives; D Szumska; A Vernet; J E Schneider; P Miller; E A Slee; S Joss; Y Lacassie; E Chen; L F Escobar; M Tucker; A S Aylsworth; H A Dubbs; A T Collins; J Andrieux; A Dieux-Coeslier; E Haberlandt; D Kotzot; D A Scott; M J Parker; Z Zakaria; Y S Choy; D Wieczorek; A M Innes; K R Jun; S Zinner; F Prin; C A Lygate; P Pretorius; J A Rosenfeld; T J Mohun; X Lu
Journal:  Cell Death Differ       Date:  2016-07-22       Impact factor: 15.828

  2 in total

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