A case of severe mental and developmental retardation associated with 14q terminal monosomy/5q terminal trisomy.
I previously described the case of a 19 year-old female with severe mental retardation, developmental retardation, microcephalus, short stature, bilateral microphthalmia, ptosis and blepharophimosis(1). 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.
Department of Pediatrics, Tokyo Metropolitan Higashiyamato Medical Center for the Severely Disabled, Higashiyamato, Tokyo, Japan. tunezou@nms.ac.jp
Tsunenori
T
Hirayama
D000015:Abnormalities, Multiple / Q000235:genetics; D000328:Adult; D002648:Child; D002883:Chromosomes, Human, Pair 14; D002895:Chromosomes, Human, Pair 5; D005192:Family Health; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007223:Infant; D008607:Intellectual Disability / Q000235:genetics*; D008297:Male; D009006:Monosomy; D010375:Pedigree; D012720:Severity of Illness Index; D014314:Trisomy; D055815:Young Adult