De novo interstitial tandem duplication of chromosome 4(q21-q28)

Autor:	E. Guillén Navarro, I. Lopez Expósito, M. C. Martinez Romero, R. Domingo Jiménez, C. Mendez Velasco, J. Gabarrón Llamas, F. J. Hernandez Ramón
Rok vydání:	1996
Předmět:	Genetics Psychomotor retardation Long philtrum Anatomy Biology medicine.disease Chromosome 4 Palpebral fissure Hypotelorism Gene duplication medicine Tandem exon duplication medicine.symptom Psychomotor disorder Genetics (clinical)
Zdroj:	American Journal of Medical Genetics. 62:297-299
ISSN:	1096-8628 0148-7299
DOI:	10.1002/(sici)1096-8628(19960329)62:3<297::aid-ajmg18>3.0.co;2-f
Popis:	We describe a girl with a previously unreported de novo duplication of chromosome 4q involving segment q21-q28. Clinical manifestations included growth and psychomotor retardation, facial asymmetry, hypotelorism, epicanthic folds, mongoloid slant of palpebral fissures, apparently low-set auricles, high nasal bridge, long philtrum, small mouth, short neck, low-set thumbs, and bilateral club foot. This phenotype is compared with that of previously reported cases of duplication 4q.
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=doi_________::89edee14568e816c605a2df01867e88a https://doi.org/10.1002/(sici)1096-8628(19960329)62:3<297::aid-ajmg18>3.0.co Zobrazit plný text záznamu Plný text