Hypotriploidy 68,XX: a new case report and review of earlier cases

Autor:	Y M, Hoedemaekers, M J K, De Kleine, M J P L, Stevens-Kroef, E E J, Smeets, C T R M, Schrander-Stumpel
Rok vydání:	2004
Předmět:	Chromosome Aberrations Fatal Outcome Ploidies Aortic Valve Face Karyotyping Infant Newborn Microcephaly Humans Muscle Hypotonia Female Syndactyly Ductus Arteriosus Patent
Zdroj:	Genetic counseling (Geneva, Switzerland). 15(3)
ISSN:	1015-8146
Popis:	We report a prematurely born patient with a 68,XX karyotype. She presented with syndactyly of 2nd and 3rd toes, minor facial features, microcephaly, slender hands, bicuspid aortic valve, patent ductus arteriosus and hypotonia. Comparison with other reported cases is given.
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=pmid________::4c7e1a26c8473742fd89126526882e08 https://pubmed.ncbi.nlm.nih.gov/15521104 Zobrazit plný text záznamu