Maternal isodisomy of chromosome 9 with no impact on the phenotype in a woman with two isochromosomes: i(9p) and i(9q)

Autor:	E J, Björck, B M, Anderlid, E, Blennow
Rok vydání:	1999
Předmět:	Adult Chromosome Aberrations Family Health Male Abortion Spontaneous Isochromosomes Phenotype Pregnancy Humans Female Chromosomes Human Pair 9 Alleles In Situ Hybridization Fluorescence Microsatellite Repeats
Zdroj:	American journal of medical genetics. 87(1)
ISSN:	0148-7299
Popis:	We describe a 34-year-old healthy woman with isochromosomes for the short and long arm of chromosome 9 who was ascertained because of repeated spontaneous abortions. Molecular analysis demonstrated maternal uniparental isodisomy for the whole chromosome 9, thus the origin of the isochromosomes was maternal. Because the patient had a normal phenotype, the maternal isodisomy supports the previous assumption that there are no maternally imprinted genes on chromosome 9.
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=pmid________::7c5cf12c97992978fc5328ad1449c151 https://pubmed.ncbi.nlm.nih.gov/10528247 Zobrazit plný text záznamu Plný text