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Eur J Med Genet. 2018 Aug 22. pii: S1769-7212(18)30092-2. doi: 10.1016/j.ejmg.2018.08.012. [Epub ahead of print]

Novel deletion of 6p21.31p21.1 associated with laryngeal cleft, developmental delay, dysmorphic features and vascular anomaly.

Author information

1
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA; Texas Children Hospital, Houston, TX, USA.
2
Texas Children Hospital, Houston, TX, USA; Department of Neurology, Baylor College of Medicine, Houston, TX, USA.
3
Texas Children Hospital, Houston, TX, USA; Meyer Center for Developmental Pediatrics, Houston, TX, USA.
4
Texas Children Hospital, Houston, TX, USA; Department of Otolaryngology, Baylor College of Medicine, Houston, TX, USA.
5
Department of Pathology and Cell Biology, Columbia University Medical Center, New York, NY, USA.
6
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA; Texas Children Hospital, Houston, TX, USA; Baylor Genetics, Houston, TX, USA.
7
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA; Baylor Genetics, Houston, TX, USA.
8
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA; Texas Children Hospital, Houston, TX, USA. Electronic address: burrage@bcm.edu.

Abstract

Interstitial deletions involving chromosome region 6p21.31p21.2 have not been previously reported in the literature. Here, we present a 2 year old girl with global developmental delay, severe speech delay, dysmorphic features, laryngeal cleft, anterior descending aorta that occluded the left main bronchus and a novel de novo deletion of chromosome 6: arr[hg19] 6p21.31p21.2 (35462950-36725083)x1. The deletion, which was diagnosed by array comparative genomic hybridization and further confirmed with fluorescence in situ hybridization, was approximately 1.26 Mb and contained 28 RefSeq genes. The deleted region includes 24 protein coding genes and 4 non-coding genes. This represents a novel microdeletion that has not been previously reported in the literature.

KEYWORDS:

6p21.31; Aberrant descending aorta; Deletion; Developmental delay; Laryngeal cleft; Speech delay

PMID:
30142436
DOI:
10.1016/j.ejmg.2018.08.012

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