A prenatally discovered unbalanced translocation t(14;22) (q22 or 23;q13)
✍ Scribed by JAN WAHLSTRÖM
- Book ID
- 114808368
- Publisher
- John Wiley and Sons
- Year
- 2009
- Tongue
- English
- Weight
- 387 KB
- Volume
- 78
- Category
- Article
- ISSN
- 0018-0661
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A family is reported in which the propositus has an extra G-like chromosome with an unusual G-banding pattern. Cytogenetic family studies showed that the mother is a carrier of a balanced reciprocal translocation t(13;22), which does not affect the size and morphology of the chromosomes involved. Th
We presenta boy with a rare unbalanced translocation 46,XY, -15, + der(22),t(l5;22)(ql3;qll) pat. Previous reports of similar chromosome findings mention only the Prader-Willi phenotype. At birth, his manifestations included severe hypotonia and lethargy, (typical of deletion of 15ptewq13); hypertel