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Article: Study findings from B.Z. Azman et al broaden understanding of cri-du-chat syndrome.
- Article from:
- Obesity, Fitness & Wellness Week
- Article date:
- October 11, 2008
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According to recent research from Kubang Kerian, Malaysia, "We report two cases of deletion 5p or cri du chat syndrome (CdCS) with different presentations and risks of transmission; one case with paternal chromosome 5 involvement and another, a de novo case with atypical clinical presentation. Cytogenetic analysis was performed on the two cases and their parents."
"GTG-banded karyotype analysis of Cases I and 2 revealed abnormal 46,XY,del(5)(p13-15) male karyotypes. For Case 1, the mother showed normal female karyotype while the father showed an abnormal karyotype involving a balanced translocation 46, XY, t (5; 1 0)(p13;p 15). For Case 2, however, both parents ...