Maternal Upd 14

Wessex clinical genetics service the princess anne hospital coxford road southampton united kingdom.

Maternal upd 14.

The result of upd is a duplicate presence of genes from one parent and no input from the other parent. Isolated imprinting mutation of the dlk1 gtl2 locus associated with a clinical presentation of maternal uniparental disomy of chromosome 14. Maternal upd 14 temple syndrome uniparental disomy is the inheritance of both chromosome homologues from one parent with no functional copy from the other. Since the first reports of temple et al in 1991 a well characterised clinical phenotype has emerged for both maternal uniparental disomy of chromosome 14 upd14.

At 7 years of age he was referred to us by the paediatrician because of symptoms of prader willi syndrome pws. Clinical report and a systematic search for cases in samples sent for testing for prader willi syndrome. When all the genes come from the mother this is termed maternal upd sometimes shortened to mupd or updmat. Temple syndrome or maternal uniparental disomy of chromosome 14 is a rare chromosome 14q32 imprinting disorder associated with a characteristic phenotype that includes hypotonia motor delay feeding difficulties early puberty small hands and feet short stature and obesity.

Maternal upd 14 in the patient with a normal karyotype. The history further indicated intrauterine growth retardation at the end of the pregnancy. Families should consult a medically qualified clinician in all matters relating to genetic diagnosis management and health. 6 hosoki k ogata t kagami m tanaka t saitoh s.

T has maternal upd 14. Whilst paternal upd 7 is clinically unapparent maternal upd 7 is one of several causes of silver russell syndrome. Maternal uniparental disomy 14 matupd14 comprises the majority of upd 14 cases and has been most commonly associated with short stature scoliosis hypotonia obesity mental and developmental delays precocious puberty and intrauterine growth retardation. 5 6 although many of the patient s clinical features are seen in.

J med genet 2007. Presentation of paternal upd 14 kagami syndrome is a thoracic dysplasia syndrome with mental retardation and limited survival. After the initial case temple et al 1991 a total of 19 cases have been reported with maternal upd14 see chapter 4. He showed short stature obesity mild developmental delay cryptorchidism and some mild dysmorphic features.

We report on a boy with a maternal uniparental disomy for chromosome 14 upd 14. With the publication of the third antonarakis et al 1993 and fourth healey et al 1994 cases of maternal upd 14 it became clear that the recurring signs and symptoms delineated a new syndrome. Epimutation hypomethylation affecting the chromosome 14q32 2 imprinted region in a girl with upd 14 mat like phenotype.