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

Autor:	Jinglan, Liu, Reena, Jethva, Michael T, Del Vecchio, John E, Hauptman, Judy M, Pascasio, Jean-Pierre, de Chadarévian
Rok vydání:	2013
Předmět:	Genetic Markers Male Chromosomes Human Pair 13 Infant Laryngomalacia Failure to Thrive Head and Neck Neoplasms Karyotyping Tetrasomy Humans Abnormalities Multiple Neural Tube Defects Hemangioma Sudden Infant Death
Zdroj:	Birth defects research. Part A, Clinical and molecular teratology. 97(12)
ISSN:	1542-0760
Popis:	Approximately 100 small supernumerary marker chromosomes (sSMCs) with a non-α-satellite neocentromere structure have been reported in the literature. Of the few derived from chromosome 13, five have consisted of inverted duplicated segment 13q32qter.We 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.We hereby expand the clinical spectrum of this rare cytogenetic disorder and suggest a possible mechanism for the pathogenesis of associated congenital vascular malformations.
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=pmid________::99a99c4f08b300cbe8066f96a58f73ad https://pubmed.ncbi.nlm.nih.gov/24222317 Zobrazit plný text záznamu Plný text