Ring chromosome 4 in a patient with early onset type 2 diabetes, deafness, and developmental delay.
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.
Blackett
Piers R
PR
Section of Diabetes and Endocrinology, Department of Pediatrics, University of Oklahoma Health Sciences Center, Oklahoma City, OK 73104, USA. piers-blackett@ouhsc.edu
Li
Shibo
S
Mulvihill
John J
JJ
D000015:Abnormalities, Multiple / Q000235:genetics* / Q000473:pathology; D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D002871:Chromosome Banding; D002894:Chromosomes, Human, Pair 4 / Q000235:genetics*; D003638:Deafness / Q000473:pathology*; D002658:Developmental Disabilities / Q000473:pathology*; D003924:Diabetes Mellitus, Type 2 / Q000473:pathology*; D005260:Female; D005500:Follow-Up Studies; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007621:Karyotyping; D018895:Microsatellite Repeats; D012303:Ring Chromosomes; D013997:Time Factors