Výsledky vyhledávání - "B F, Manasse"

Possible isochromosome 22 leading to trisomy 22

Autor: B F, Manasse, W M, Pfaffenzeller, N, Gurtunca, T J, de Ravel

Publikováno v: American journal of medical genetics. 95(5)

We describe the first case of trisomy 22 resulting from a monocentric, possible isochromosome 22. The female infant had multiple anomalies including an abnormal face, ambiguous genitalia, and both ventricular and atrial septal defects. Survival was s

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::495600267b56a61d14cb7c7b828ea2ab
https://pubmed.ncbi.nlm.nih.gov/11146458

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The Pallister-Killian syndrome is reliably diagnosed by FISH on buccal mucosa

Autor: T. De Ravel, N Lekgate, W M Pfaffenzeller, B F Manasse

Publikováno v: Clinical dysmorphology. 9(3)

The Pallister-Killian syndrome is a rare disorder, which is clinically diagnosed and usually confirmed by the detection of mosaicism for an isochromosome 12p in fibroblast cultures. To date FISH on buccal mucosa has been used in only three cases and

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::56deeae349488134a2391882ca8b4319
https://pubmed.ncbi.nlm.nih.gov/10955474

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