Maternal uniparental disomy for chromosome 14 in a boy with a normal karyotype

We report on a boy with a maternal uniparental disomy for chromosome 14 (UPD(14)). At 7 years of age he was referred to us by the paediatrician because of symptoms of Prader-Willi syndrome (PWS). He showed short stature, obesity, mild developmental delay, cryptorchidism, and some mild dysmorphic fea...

Täydet tiedot

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Bibliografiset tiedot
Päätekijät: Hordijk, R., Wierenga, H., Scheffer, H., Leegte, B., Hofstra, R., Stolte-Dijkstra, I.
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: BMJ Group 1999
Aiheet:
Short Report
Linkit:https://ncbi.nlm.nih.gov/pmc/articles/PMC1734247/
https://ncbi.nlm.nih.gov/pubmed/10528860
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