Interstitial deletion of chromosome 5 in a neonate due to maternal insertion, ins(8;5)(p23;q33q35)

Autor:	Siew Yee Tan, Su Keyau Kee, Barbara Gibbons, Seh Teen Lim, Roger Quaife
Rok vydání:	1999
Předmět:	congenital hereditary and neonatal diseases and abnormalities Microcephaly Chromosome Short neck Anatomy In situ hybridization Biology medicine.disease Pulmonary hypertension Camptodactyly medicine.anatomical_structure Ductus arteriosus medicine Insertion medicine.symptom Genetics (clinical)
Zdroj:	American Journal of Medical Genetics. 86:289-293
ISSN:	1096-8628 0148-7299
Popis:	We describe an infant girl with an interstitial deletion of chromosome bands 5q33 to 5q35 inherited from a maternal interchromosomal insertion ins(8;5)(p23;q33q35) which was demonstrated by fluorescent in situ hybridization with whole chromosome paints. Physical anomalies included hypertonicity, microcephaly, short neck, apparently low-set ears, micrognathia, camptodactyly, mild rocker bottom feet, and hammer toe. Cardiac anomalies included a large ventricular septal defect, patent ductus arteriosus, pulmonary hypertension and hypoplastic right ventricle. She died at age 3 months.
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=doi_________::6aa052640fd17c4eead8192b5c6476ae https://doi.org/10.1002/(sici)1096-8628(19990917)86:3<289::aid-ajmg19>3.0.co Zobrazit plný text záznamu Plný text