Homozygous paracentric inversion 12 in a mentally retarded boy: a case report and review of the literature

Autor:	Laurence Km, Price Ha, S. H. Roberts
Rok vydání:	1987
Předmět:	Genetics Male congenital hereditary and neonatal diseases and abnormalities Chromosomes Human Pair 12 Adolescent Homozygote Karyotype Mentally retarded Biology Long arm Pedigree Intellectual Disability Karyotyping Chromosome Inversion Humans Metabolic disease Genetics (clinical) Chromosome 12 Chromosomal inversion
Zdroj:	Human genetics. 75(2)
ISSN:	0340-6717
Popis:	A mentally retarded male was found to be homozygous for a paracentric inversion of the long arm of chromosome 12(inv(12)(q21.1q23.2)). His parents, who are first cousins, and his phenotypically normal younger brother are inversion heterozygotes. Homozygous structural rearrangements are discussed and cases of paracentric inversions, including a further nine previously unpublished, are reviewed.
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=doi_dedup___::20d212aff46a07db1dc542898e99af11 https://pubmed.ncbi.nlm.nih.gov/3546078 Zobrazit plný text záznamu Full text from SpringerLink