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Partial trisomy of 11q23.3‐q25 inherited from a maternal low‐level mosaic unbalanced translocation
Author(s) -
Choi Jungyoon,
Lee Hojung,
Lee Cha Gon
Publication year - 2015
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.36980
Subject(s) - chromosomal translocation , trisomy , biology , fluorescence in situ hybridization , microcephaly , comparative genomic hybridization , genetics , partial trisomy , craniofacial , chromosome , karyotype , gene
Partial trisomy of 11q is characterized by pre/postnatal growth retardation, microcephaly, dysmorphic craniofacial features, cognitive disability, abnormal muscle tone, inguinal hernia, and possible congenital heart defects. Here, we describe a 17‐year‐old male with a 17.77 Mb‐sized [arr 11q23.3‐q25 (116,667,559 –134,434,130) ×3] partial trisomy resulting from the unbalanced translocation between chromosomes 11 and 22. The terminal translocation was detected using oligonucleotide array comparative genomic hybridization (CGH) with fluorescence in situ hybridization (FISH) confirmation. The partial trisomy was inherited from his mother who had the low‐level (22.7%) mosaic unbalanced translocation and a normal phenotype. The patient showed most of the common features of partial trisomy 11q syndrome, with additional findings, including mesenteric fibromatosis. © 2015 Wiley Periodicals, Inc.