Maternal uniparental disomy of chromosome 13 in a phenotypically normal child.

Maternal uniparental disomy of chromosome 14 confined to an interstitial segment (14q23-14q24.2).

Maternal uniparental disomy for the complete long arm of chromosome 14 has been reported in 14 patients to date and is associated with a specific pattern of malformation. We report a child with clinical features of this syndrome who exhibits maternal uniparental disomy confined to a specific interstitial segment of chromosome 14.

First Genetic Screening for Maternal Uniparental Disomy of Chromosome 7 in Turkish Silver-Russell Syndrome Patients

OBJECTIVE Silver-Russell syndrome (SRS) is a clinically and genetically heterogeneous syndrome which is characterized by severe intrauterine and postnatal growth retardation, and typical characteristic facial dysmorphisms. It has been associated with maternal uniparental disomy (UPD) for chromosome 7 and hypomethylation of imprinting control region 1 (IGF2/H19) in 11p15. UPD refers to the situa...

Maternal Uniparental Disomy of Human Chromosome 7

Prenatal and postnatal growth failure associated with maternal heterodisomy for chromosome 7.

The association of maternal uniparental disomy for chromosome 7 and postnatal growth failure has been reported in four cases and suggests the presence of genomic imprinting of one or more growth related genes on chromosome 7. However, in the reported cases, the possibility of homozygosity for a recessive mutation could not be excluded as the cause of the growth failure as in all cases isodisomy...

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 ...