Maternal Upd 14

At 7 years of age he was referred to us by the paediatrician because of symptoms of prader willi syndrome pws.

Maternal upd 14. 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. Clinical report and a systematic search for cases in samples sent for testing for prader willi syndrome. Information on genetic changes is a very fast moving field and while the. 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. Epimutation hypomethylation affecting the chromosome 14q32 2 imprinted region in a girl with upd 14 mat like phenotype. Whilst paternal upd 7 is clinically unapparent maternal upd 7 is one of several causes of silver russell syndrome. We report on a boy with a maternal uniparental disomy for chromosome 14 upd 14.

When all the genes come from the mother this is termed maternal upd sometimes shortened to mupd or updmat. 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. Wessex clinical genetics service the princess anne hospital coxford road southampton united kingdom. 6 hosoki k ogata t kagami m tanaka t saitoh s.

5 6 although many of the patient s clinical features are seen in. After the initial case temple et al 1991 a total of 19 cases have been reported with maternal upd14 see chapter 4. 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. The history further indicated intrauterine growth retardation at the end of the pregnancy.

Maternal upd 14 in the patient with a normal karyotype. Uniparental disomy upd both chromosomes in one of the 23 pairs have come from the same parent. T has maternal 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.

Maternal upd 14 temple syndrome uniparental disomy is the inheritance of both chromosome homologues from one parent with no functional copy from the other. J med genet 2007. Families should consult a medically qualified clinician in all matters relating to genetic diagnosis management and health.