Open AccessNovel 1.3 Mb germline duplication in chromosome 8q21.11 by microarray comparative genomic hybridization plus single nucleotide polymorphism analysis in an adult patient with pancytopenia and urinary bladder complications
Author(s) -
Reyes Barron Cynthia,
Evans Andrew G.,
Miyamoto Hiroshi,
Zhang Bin,
Iqbal M. Anwar
Publication year - 2018
Publication title -
clinical case reports
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.21
H-Index - 9
ISSN - 2050-0904
DOI - 10.1002/ccr3.1746
Subject(s) - comparative genomic hybridization , gene duplication , microarray , germline , genetics , medicine , single nucleotide polymorphism , chromosome , gene , biology , genotype , gene expression
Key Clinical Message We present the case of a 30‐year‐old woman with a history of perinatal complications as well as bladder and urinary disease through her childhood and adult life. Microarray comparative genomic hybridization ( aCGH ) analysis revealed a 1.3 megabase duplication at chromosome 8q21.11 encompassing the CASC 9 and HNF 4G genes.