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Maternal uniparental disomy 22 has no impact on the phenotype.

A 25-year-old normal healthy male was karyotyped because five of his wife's pregnancies terminated in spontaneous abortions at 6-14 wk of gestation. Cytogenetic investigation disclosed a de novo balanced Robertsonian t(22q;22q) translocation. Molecular studies revealed maternal only inheritance...

Deskribapen osoa

Gorde:
Xehetasun bibliografikoak
Egile Nagusiak: Schinzel, A. A., Basaran, S., Bernasconi, F., Karaman, B., Yüksel-Apak, M., Robinson, W. P.
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: 1994
Gaiak:
Sarrera elektronikoa:https://ncbi.nlm.nih.gov/pmc/articles/PMC1918072/
https://ncbi.nlm.nih.gov/pubmed/8279466
Etiketak: Etiketa erantsi
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