A case of presumptive monosomy 21 re-diagnosed as unbalanced t(5p;21q) by FISH and review of literature.
By using fluorescence in situ hybridization (FISH), we demonstrate a case of monosomy 21 to result from an unbalanced translocation involving the short arm of chromosome 5 and the long arm of chromosome 21. Our case is compared to 3 similar cases of t(5p;21q) reported recently, which were also originally diagnosed as monosomy 21. The breakpoint on chromosome 5 in these cases occurred in the p13-p15 region, whereas the breakpoint on chromosome 21 was in the q21-q22 region. Comparison of the clinical findings in these patients demonstrated great similarities. Furthermore, a strong correlation between the clinical manifestations of these patients with cridu-chat syndrome patients was also noted. We suggest that cases with unbalanced t(5p;21q) represent a distinct syndrome which can be grouped under a new category of "5p/21q deletion syndrome."
Iqbal
M A
MA
Department of Pathology and Laboratory Medicine, Riyadh, Saudi Arabia.
Ahmed
M Z
MZ
Wu
D
D
Sakati
N
N
D002891:Chromosomes, Human, Pair 21 / Q000235:genetics*; D002895:Chromosomes, Human, Pair 5 / Q000235:genetics*; D003410:Cri-du-Chat Syndrome / Q000235:genetics*; D003937:Diagnosis, Differential; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007231:Infant, Newborn; D007621:Karyotyping; D008297:Male; D009006:Monosomy / Q000235:genetics*; D014178:Translocation, Genetic