We report a case of maternal uniparental disomy 2, detected through routine screening of
placental karyotypes following the finding of 'atypical'AFP/hCG levels in the second …

Uniparental disomy (UPD) is the occurrence of both homologous chromosomes from one
parent. Maternal UPD (16) is the most often reported UPD other than UPD (15); almost all …

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 …

AMNIOCENTESIS for genetic evaluation is now a well-established prenatal diagnostic
procedure. The discovery of twins at the time of amniocentesis, however, necessitates …

The existence of paternal uniparental disomy of chromosome 16 [upd (16) pat] has
previously been suspected but has not been proven. We report prenatal detection and follow …

The possibility that a pair of homologous chromosomes could be inherited exclusively from
one parent was first discussed by Engel (1980) and termed" uniparental disomy." Its …

Prader–Willi syndrome (PWS) results primarily from either a paternal deletion of 15q11–q13
or maternal uniparental disomy (UPD) of chromosome 15. Including the present and …

Abstract Approximately 15–20% of all clinically recognised pregnancies abort, most
commonly between 8–12 gestational weeks. While the majority of early pregnancy losses is …

Prader-Willi syndrome (PWS) and Angelman syndrome (AS) are distinct mental retardation
disorders caused by a deficiency of paternal (PWS) or maternal (AS) contributions for …

Patients with autosomal recessive (AR) disorders are usually born to parents both of whom
are heterozygous carriers of the disease. However, in some instances only one of the …