Journal article
Tetrasomy 13q32.2qter Due to an Apparent Inverted Duplicated Neocentric Marker Chromosome in an Infant with Hemangiomas, Failure to Thrive, Laryngomalacia, and Tethered Cord
Birth defects research. A Clinical and molecular teratology, v 97(12), pp 812-815
Dec 2013
PMID: 24222317
Featured in Collection : UN Sustainable Development Goals @ Drexel
Abstract
BACKGROUNDApproximately 100 small supernumerary marker chromosomes (sSMCs) with a non--satellite neocentromere structure have been reported in the literature. Of the few derived from chromosome 13, five have consisted of inverted duplicated segment 13q32qter.
CASE REPORTWe herein describe the sixth case, characterized by genome wide SNP array, conventional cytogenetics and FISH studies. The de novo occurrence of the marker, the poor prognosis and the presence of hemangiomas are consistent with previous cases.
CONCLUSIONWe hereby expand the clinical spectrum of this rare cytogenetic disorder and suggest a possible mechanism for the pathogenesis of associated congenital vascular malformations. Birth Defects Research (Part A), 97:812-815, 2013. (c) 2013 Wiley Periodicals, Inc.
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Details
- Title
- Tetrasomy 13q32.2qter Due to an Apparent Inverted Duplicated Neocentric Marker Chromosome in an Infant with Hemangiomas, Failure to Thrive, Laryngomalacia, and Tethered Cord
- Creators
- Jinglan Liu - St. Christopher's Hospital for ChildrenReena Jethva - St. Christopher's Hospital for ChildrenMichael T. Del Vecchio - Temple UniversityJohn E. Hauptman - St. Christopher's Hospital for ChildrenJudy M. Pascasio - St. Christopher's Hospital for ChildrenJean-Pierre de Chadarevian - Drexel University
- Publication Details
- Birth defects research. A Clinical and molecular teratology, v 97(12), pp 812-815
- Publisher
- Wiley
- Number of pages
- 4
- Resource Type
- Journal article
- Language
- English
- Academic Unit
- Pediatrics; Pathology (and Laboratory Medicine)
- Web of Science ID
- WOS:000328477700010
- Scopus ID
- 2-s2.0-84890433633
- Other Identifier
- 991021838277404721
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- Collaboration types
- Domestic collaboration
- Web of Science research areas
- Developmental Biology
- Toxicology