Monosomy 21q: two cases of del(21q) and review of the literature
✍ Scribed by J.-L. Huret; C. Léonard; M. Chery; C. Philippe; E. Schafei-Benaissa; G. Lefaure; B. Labrune; S. Gilgenkrantz
- Book ID
- 115091718
- Publisher
- John Wiley and Sons
- Year
- 2008
- Tongue
- English
- Weight
- 892 KB
- Volume
- 48
- Category
- Article
- ISSN
- 0009-9163
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Reexamination was made on a male infant previously reported as 21-monosomy. Extensive chromosome banding analyses in the patient and parents disclosed an unbalanced de novo translocation between chromosomes 13 and 21. The patient's karyotype was interpreted as 45,XY,--13,--21+der(13),t(13;21) (q2 or
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 origi