The maternal uniparental disomy of chromosome 6 (upd(6)mat) “phenotype”: result of placental trisomy 6 mosaicism?

The maternal uniparental disomy of chromosome 6 (upd(6)mat) “phenotype”: result of placental trisomy 6 mosaicism?

BACKGROUND Maternal uniparental disomy of chromosome 6 (upd(6)mat) is a rare finding and its clinical relevance is currently unclear. Based on clinical data from two new cases and patients from the literature, the pathogenetic significance of upd(6)mat is delineated. METHODS Own cases were molecularly characterized for isodisomic uniparental regions on chromosome 6. For further cases with upd...

Maternal Uniparental Disomy of Human Chromosome 7

A male with trisomy 9 mosaicism and maternal uniparental disomy for chromosome 9 in the euploid cell line.

We describe a 17 year old male with a low level of trisomy 9 mosaicism. Maternal uniparental chromosome 9 disomy in the euploid cell line was shown to have arisen after postzygotic loss of the paternal chromosome 9 from the trisomic cell line by cytogenetic and molecular analysis. This is believed to be the first report of uniparental disomy for chromosome 9. In four of the 11 reported cases of...

Paternal uniparental disomy for chromosome 6 causes transient neonatal diabetes.

We report an infant with intrauterine growth retardation and transient neonatal diabetes who has paternal uniparental disomy for chromosome 6. The infant was not dysmorphic and had no congenital anomalies. To our knowledge, this is the third case of paternal uniparental disomy occurring in an infant with transient neonatal diabetes, thus confirming the association.

Maternal uniparental disomy for chromosome 14.

We report the first case of maternal uniparental disomy of chromosome 14 in humans. The male proband inherited a balanced 13;14 Robertsonian translocation from his mother. Molecular studies showed that neither chromosome 14 was of paternal origin. The proband is of above average intelligence, but he has hydrocephalus, a bifid uvula, premature puberty, short stature, and small testes. It is not ...