Maternal uniparental disomy 22 has no impact on the phenotype.

Article

Maternal uniparental disomy 22 has no impact on the phenotype.

American journal of human genetics - 1 Jan 1994

Schinzel A A, Basaran S, Bernasconi F, Karaman B, Yüksel-Apak M, Robinson W P

Abstract excerpt

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 f...

Topics

Abortion, Spontaneous
Adult
Aneuploidy
Chromosomes, Human, Pair 22
Female
Humans
Karyotyping
Male
Pedigree
Phenotype
Pregnancy
Translocation, Genetic

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