-Case Reports-

A Case of Severe Mental and Developmental Retardation Associated with 14q Terminal Monosomy/5q Terminal Trisomy

Tsunenori Hirayama^1-3

¹Department of Pediatrics, Tokyo Metropolitan Higashiyamato Medical Center for the Severely Disabled, Tokyo
²Department of Pediatrics, National Hospital Organization (NHO) Fukushima Hospital, Fukushima
³Department of Pediatrics, Graduate School of Medicine, Nippon Medical School

I previously described the case of a 19 year-old female with severe mental retardation, developmental retardation, microcephalus, short stature, bilateral microphthalmia, ptosis and blepharophimosis¹. Now, I present clinical descriptions of her half-siblings, who have a different father. Subtelomeric fluorescence in situ hybridization (FISH) analysis of the proband demonstrated 5q terminal trisomy and 14q terminal monosomy. I presume that her mother harbors a balanced translocation between the terminal of chromosome 5q and 14q. I suggest that familial cases of mental retardation and dysmorphic features should be screened for terminal chromosomal abnormalities by FISH or comparative genomic hybridization (CGH), even if G-banding analysis or high-resolution chromosome analysis is normal.

J Nippon Med Sch 2010; 77: 40-44

Keywords
subtelomere, 5q terminal trisomy, 14q terminal monosomy, chromosomal aberration, fluorescence in situ hybridization

Correspondence to
Tsunenori Hirayama, Department of Pediatrics, Tokyo Metropolitan Higashiyamato Medical Center, 3-44-10 Sakuragaoka, Higashiyamato, Tokyo 207-0022, Japan
tunezou@nms.ac.jp

Received, June 29, 2009
Accepted, October 21, 2009