Tetrasomy 13q32.2qter due to an apparent inverted duplicated neocentric marker chromosome in an infant with hemangiomas, failure to thrive, laryngomalacia, and tethered cord-Reference-Cited by-同舟云学术

Tetrasomy 13q32.2qter due to an apparent inverted duplicated neocentric marker chromosome in an infant with hemangiomas, failure to thrive, laryngomalacia, and tethered cord

Published:2013-11-12 Issue:12 Volume:97 Page:812-815
ISSN:1542-0752
Container-title:Birth Defects Research Part A: Clinical and Molecular Teratology
language:en
Short-container-title:Birth Defects Research Part A: Clinical and Molecular Teratology

Author:

Liu Jinglan¹,Jethva Reena²,Del Vecchio Michael T.³,Hauptman John E.¹,Pascasio Judy M.¹,de Chadarévian Jean-Pierre¹

Affiliation:

1. Department of Pathology and Laboratory Medicine, St. Christopher's Hospital for Children; Drexel University College of Medicine; Philadelphia Pennsylvania

2. Department of Neurology, St. Christopher's Hospital for Children; Drexel University College of Medicine; Philadelphia Pennsylvania

3. Department of Pediatrics; Temple University School of Medicine; Philadelphia Pennsylvania

Publisher

Wiley

Subject

Developmental Biology,Embryology,General Medicine,Pediatrics, Perinatology, and Child Health

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/bdra.23197/fullpdf

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3. Characterization of neo-centromeres in marker chromosomes lacking detectable alpha-satellite DNA;Depinet;Hum Mol Genet,1997

4. Genetics and syndromes associated with vascular malformations;Duffy;Pediatr Clin North Am,2010

5. Growth factors acting via endothelial cell-specific receptor tyrosine kinases: VEGFs, angiopoietins, and ephrins in vascular development;Gale;Genes Dev,1999

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1. Prenatal identification of an inverted duplicated 13q marker chromosome with a neocentromere;Molecular Cytogenetics;2023-11-30

2. Case Report: Prenatal Identification of a De Novo Mosaic Neocentric Marker Resulting in 13q31.1→qter Tetrasomy in a Mildly Affected Girl;Frontiers in Genetics;2022-07-19

3. Hexasomy 13q31.3q34 due to two marker chromosomes with inverted duplication in a fetus with increased nuchal translucency;Birth Defects Research Part A: Clinical and Molecular Teratology;2015-04

4. Centromeres in Health, Disease and Evolution;Genomic Elements in Health, Disease and Evolution;2015