Trisomy 8 mosaicism in Two Filipino children / Mary Anne D. Chiong [and two others]

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Abstract: We describe two Filipino patients with Trisomy 8 mosaicism syndrome. Both had global developmental delay, mental deficiency, facial dysmorphism, skeletal deformities and the characteristic deep plantar and palmar creases. Their phenotype and radiologic features were consistent with the previously reported cases. Hematologic malignancies have recently been found to be associated with this chromosomal abnormality, emphasizing the importance of monitoring for cancer risks.
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Journal Article DOH Central Library Electronic Resource Section J000070 (Browse shelf) Available D0001J000070

We describe two Filipino patients with Trisomy 8 mosaicism syndrome. Both had global developmental delay, mental deficiency, facial dysmorphism, skeletal deformities and the characteristic deep plantar and palmar creases. Their phenotype and radiologic features were consistent with the previously reported cases. Hematologic malignancies have recently been found to be associated with this chromosomal abnormality, emphasizing the importance of monitoring for cancer risks.

in: Acta Medica Philippina, 2008 vol 42 (2) pages: 55-59

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