A case of presumptive monosomy 21 re-diagnosed as unbalanced t(5p;21q) by FISH and review of literature.

[monosomy 21]

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 (5 p ;21 q ) reported recently , which were also originally diagnosed as monosomy 21 . The breakpoint on chromosome 5 in these cases occurred in the p 13 -p 15 region , whereas the breakpoint on chromosome 21 was in the q 21 -q 22 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 (5 p ;21 q ) represent a distinct syndrome which can be grouped under a new category of "5 p /21 q deletion syndrome ."

Diseases
Validation

Diseases presenting "long arm" symptom

22q11.2 deletion syndrome

benign recurrent intrahepatic cholestasis

carcinoma of the gallbladder

cohen syndrome

dedifferentiated liposarcoma

kabuki syndrome

liposarcoma

monosomy 21

wolf-hirschhorn syndrome

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