A Case of Complex de Novo Rearrangements Involving Four Chromosomes

Autor:	Mitsushiro Kida, Mariko Uehara, Hiroshi Ushijima
Rok vydání:	1980
Předmět:	Genetics Pathology medicine.medical_specialty Gastrointestinal tract medicine.diagnostic_test Cri du Chat Syndrome Chromosome Computed tomography Karyotype Congenital malformations Biology Long arm Pediatrics Perinatology and Child Health medicine Small supernumerary marker chromosome
Zdroj:	Pediatrics International. 24:299-302
ISSN:	1442-200X 1328-8067
DOI:	10.1111/j.1442-200x.1980.tb00524.x
Popis:	We described complex de novo rearrangements involving four chromosomes in a child with congenital malformations. Clinical features of this patient resembled those of cri du chat syndrome. Examinations in electroencephalography, electrocardiography, computed tomography and gastrointestinal tract showed abnormalities. The karyotype of the propositus was complex de novo rearrangements involving four chromosomes and deletion in the long arm of chromosome 1.
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=doi_________::965c821aa6269659bc581a39061a2678 https://doi.org/10.1111/j.1442-200x.1980.tb00524.x Zobrazit plný text záznamu Plný text