Prenatal detection and molecular characterization of a de novo duplication of the distal long arm of chromosome 19

Autor:	P D, Cotter, L D, McCurdy, I F, Gershin, A, Babu, J P, Willner, R J, Desnick
Rok vydání:	1997
Předmět:	Adult Chromosome Aberrations Male Parents Chorionic Villi Sampling Pregnancy Humans Female Chromosomes Human Pair 19 In Situ Hybridization Fluorescence Microsatellite Repeats Pedigree
Zdroj:	American journal of medical genetics. 71(3)
ISSN:	0148-7299
Popis:	A tandem duplication of the distal long arm of chromosome 19 was identified in a 10 week fetus by analysis of chorionic villi. The fetal karyotype from two primary cultures was 46,XY,dir dup(19)(q13.2q13.4). The origin of the extra material was confirmed by fluorescence in situ hybridization using a chromosome 19 whole chromosome probe. Parental chromosomes were normal, indicating a de novo origin of the extra chromosome material. This is the first case of dup(19q) detected by prenatal diagnosis. Molecular studies demonstrated that the duplication involved a maternal chromosome 19.
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=pmid________::b68e942b8e6113ef8e2abadf0b529fa6 https://pubmed.ncbi.nlm.nih.gov/9268103 Zobrazit plný text záznamu Plný text