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A diagnostic clinical genetic study of craniofacial dysmorphism / Farag, H.M.

Tác giả : Farag, H.M.

Năm xuất bản : 1999

Chủ đề : 1. Chromosome Aberrations. 2. Craniofacial Abnormalities. 3. Genetic Markers. 4. In Situ Hybridization, Fluorescence. 5. Prader-Willi Syndrome. 6. Williams Syndrome.

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470-477 A diagnostic evaluation of craniofacial anomalies, either isolated or as part of a genetic syndrome was conducted on 25 patients [8 females, 17 males], age range 2 months to 47 years. Complete genetic examination, pedigree analysis, anthropometric measurements and radiological studies were carried out. Cytogenetic studies included fluorescence in situ hybridization [FISH] when indicated. In all, 15 patients had chromosomal abnormalities. Five patients had unbalanced chromosome rearrangements and six had chromosome markers. Three patients were FISH-positive for William syndrome and one was positive for Prader-Willi syndrome. Ten patients had monogenic disorders. Five were diagnosed as craniosynostosis syndromes. We conclude that minor features are useful for making a diagnosis of congenital anomalies
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https://iris.who.int/handle/10665/118730