Open AccessA patient with constitutional ring 1 chromosome characterized by SNP array CGH
Author(s) -
Saliganan Sheila,
Lee Joanna,
Wei Sainan
Publication year - 2016
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/ccr3.522
Subject(s) - ring chromosome , comparative genomic hybridization , chromosome , ring (chemistry) , medicine , genetics , karyotype , biology , gene , chemistry , organic chemistry
Key Clinical Message We present a male patient with constitutional ring 1 chromosome and subsequent 6 Mb deletion at 1q43q44. The patient displays overlapping clinical features with reported patients with ring 1 chromosome and 1q43q44 microdeletion syndrome. To our knowledge, this is the first patient with ring 1 chromosome characterized by comparative genomic hybridization.