Chromosome 2q duplications: case report of a de novo interstitial duplication and review of the literature

Autor:	L M, Bird, J T, Mascarello
Rok vydání:	2001
Předmět:	Adult Chromosome Aberrations Male Adolescent Infant Newborn Infant Middle Aged Chromosome Banding Child Preschool Chromosomes Human Pair 2 Gene Duplication Humans Female Child
Zdroj:	American journal of medical genetics. 100(1)
ISSN:	0148-7299
Popis:	A patient with dir dup 2(q37.1q33.1) is described. Literature review of chromosome 2q duplications suggests a consistent, though nonspecific, facial phenotype. Segregation of those cases that are "pure" duplications from those with accompanying monosomy for another chromosome suggests that a cleft palate may not be attributable to the duplicated segment.
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=pmid________::d5e66e8099f853986d4ab1e029e36873 https://pubmed.ncbi.nlm.nih.gov/11337743 Zobrazit plný text záznamu Plný text