Chromosome 1q terminal deletion resulting from de novo translocation with an acrocentric chromosome

Autor:	Kenichi Tamura, Eiko Arai, Tatsuro Ikeuchi, Mitsushiro Kida, Shuichi Nishimura
Rok vydání:	1994
Předmět:	Genetics Monosomy Acrocentric chromosome Chromosome Chromosomal translocation Biology medicine.disease Phenotype Molecular biology Translocation Genetic Chromosomes Human Pair 1 Child Preschool Gene expression medicine Humans In patient Female Chromosome Deletion Genetics (clinical)
Zdroj:	The Japanese journal of human genetics. 39(4)
ISSN:	0916-8478
Popis:	Distal deletion of chromosome 1q has been reported in nearly 30 patients, all being associated with a deletion ranging from the 1q42 or q43 band to 1qter region. Here, we describe a girl with 1q terminal deletion resulting from an unbalancedde novo translocation t(1;D or G)(q44; p11), as revealed by the presence of a satellited feature and an NOR-stained region at the tip of 1q. We suggest that most of the phenotypic abnormalities seen in patients with 1q distal deletion are attributable to the monosomy for band 1q44.
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4036f28286fd1c57fc8daeb89afe60c9 https://pubmed.ncbi.nlm.nih.gov/7873756 Zobrazit plný text záznamu Full text from SpringerLink