A case of presumptive monosomy 21 re-diagnosed as unbalanced t(5p;21q) by FISH and review of literature
1997; Wiley; Volume: 70; Issue: 2 Linguagem: Inglês
10.1002/(sici)1096-8628(19970516)70
ISSN1096-8628
AutoresM. Anwar Iqbal, Mohammed Zein Seid Ahmed, David Wu, Nadia Sakati,
Tópico(s)Prenatal Screening and Diagnostics
ResumoBy 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. J. Med. Genet. 70:174–178, 1997. © 1997 Wiley-Liss, Inc.
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