A case of presumptive monosomy 21 re-diagnosed as unbalanced t(5p;21q) by FISH and review of literature
✍ Scribed by Iqbal, M. Anwar; Ahmed, Mohammed Zein Seid; Wu, David; Sakati, Nadia
- Publisher
- John Wiley and Sons
- Year
- 1997
- Tongue
- English
- Weight
- 345 KB
- Volume
- 70
- Category
- Article
- ISSN
- 0148-7299
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✦ Synopsis
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.'' Am.