Brain-stem serotonin transporter availability in maternal uniparental disomy and deletion Prader–Willi syndrome

Maternal uniparental disomy 7 in Silver-Russell syndrome.

Silver-Russell syndrome (SRS) is characterised by intrauterine and postnatal growth failure accompanied by a variable number of dysmorphic features. It is usually sporadic although a few familial cases have been described. In a prospective study of 33 patients with sporadic SRS, we have studied the parent of origin of chromosome 7 using variable number tandem repeat (VNTR) or microsatellite rep...

Maternal Uniparental Disomy of Human Chromosome 7

Myoclonus-dystonia due to maternal uniparental disomy.

BACKGROUND Myoclonus-dystonia is a movement disorder often associated with mutations in the maternally imprinted epsilon-sarcoglycan (SGCE) gene located on chromosome 7q21. Silver-Russell syndrome is a heterogeneous disorder characterized by prenatal and postnatal growth restriction and a characteristic facies, caused in some cases by maternal uniparental disomy of chromosome 7. OBJECTIVES To...

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 ...

Chromosome 15 maternal uniparental disomy and psychosis in Prader-Willi syndrome.

MATERIALS AND METHODS Fifty-nine PWS patients with the diagnosis confirmed by DNA methylation testing had regular and long term follow up at the Centre for Human Genetics in Leuven. For more then 10 years, these patients have been seen at least once a year by a clinical geneticist and a psychiatrist skilled in the assessment of people with learning disabilities. Detailed information on clinical...