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Ring chromosome 4 in a patient with early onset type 2 diabetes, deafness, and developmental delay
Author(s) -
Blackett Piers R.,
Li Shibo,
Mulvihill John J.
Publication year - 2005
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.20386
Subject(s) - audiology , chromosome , ring (chemistry) , type 2 diabetes , medicine , ring chromosome , genetics , pediatrics , biology , diabetes mellitus , karyotype , endocrinology , chemistry , gene , organic chemistry
To date, most ring formations of chromosome 4 lose distal 4p and usually include the Wolf–Hirschhorn syndrome region [ WHS ]. We describe a case with r(4) in a girl who presented without features of WHS ; she had mild developmental delay, deafness, short stature, obesity, and the onset of type 2 diabetes in adolescence, a distinctive phenotype. Although 4p was significantly deleted on Giemsa banding, the 4p junction was distal to the WHS and FGFR3 but proximal to the D4S3360 marker. The 4q breakpoint was close to the telomere. The phenotype appears different from previous patients with 4p‐ or r(4), which have had more extensive 4p deletion. © 2005 Wiley‐Liss, Inc.