BACKGROUND We undertook a genome wide single nucleotide polymorphism analysis of a spectrum of patients with myelodysplastic syndrome del(5q) in order to investigate whether additional genomic abnormalities occur. Single nucleotide polymorphism array analysis has been shown to detect not only gene deletions but also regions of uniparental disomy that can pinpoint particular regions for mutation...

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 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.

Uniparental disomy (UPD) is the inheritance of both copies of a given chromosome from the same parent (Warburton, 1988; Anon., 1991). The exact disease associations of UPD of individual chromosomes have yet to be fully elucidated and the question of whether UPD of some chromosomes may be regarded as a benign finding remains unanswered. We report an infant with uniparental maternal disomy 16, th...

uniparental disomy (upd) is a situation in which both members of a chromosome pair are inherited from one parent. this study has been conducted on a family with a five year-old healthy girl and a mentally retarded boy. the parents were first cousins and they both had robertsonian translocation between their long arm of chromosome 13 and 14 [45, xy t (13q14q)]. their affected son had a similar k...

PRADER-WILLI SYNDROME (PWS) and ANGELMAN SYNDROME (AS) are distinct neurogenetic disorders, both usually caused by chromosomal deletions on chromosome 15q11 or by uniparental disomy. The chromosomal alterations result in an aberrant expression profile of gene loci that are subject to imprinting. Absence of a paternal allele of chromosome 15q11, due to chromosomal deletion or uniparental disomy,...

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 ...

Uniparental disomy represents a departure from the usual situation in which one member of each pair of chromosomes (called homologous chromosomes) is normally inherited from each parent. Thus, for each of the 23 pairs of human chromosomes, one is normally inherited from the father and the other from the mother. Uniparental disomy (UPD) is the abnormal situation in which both members of a chromo...

A case of maternal uniparental disomy of chromosome 13 is described. The subject is a phenotypically normal male who inherited a t(13;13)(p11.2;p11.2) from his mother who is a carrier of this translocation. The mother was ascertained through a history of recurrent abortion and is phenotypically normal. The translocation in both subjects was studied by cytogenetic and DNA analysis and appears to...