Partial trisomy 21: a fifty-year follow-up visit

Autor:	Bruce R. Korf, Wayne H. Finley, Fady M. Mikhail, Andrew J. Carroll, J. Austin Hamm
Rok vydání:	2014
Předmět:	Proband Genetics Partial Trisomy Chromosomes Human Pair 15 High resolution Karyotype Chromosomal translocation Biology Translocation Genetic Phenotype Cytogenetic Analysis Humans Family Down Syndrome Genetics (clinical) Cytogenetic Techniques Comparative genomic hybridization Follow-Up Studies
Zdroj:	American journal of medical genetics. Part A. 167(7)
ISSN:	1552-4833
Popis:	We describe a clinical encounter with family members that carry a balanced translocation involving chromosomes 15 and 21 roughly 50 years after the proband was diagnosed with partial trisomy 21 due to an unbalanced translocation. We discuss how these chromosomal rearrangements have impacted the lives of these individuals, and how they responded to revisiting their diagnoses after using updated cytogenetic techniques including high resolution chromosome banding and array comparative genomic hybridization. © 2015 Wiley Periodicals, Inc.
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=doi_dedup___::17c7d9cf42e6d4b268f3a0234bcd0be3 https://pubmed.ncbi.nlm.nih.gov/25944586 Zobrazit plný text záznamu Plný text