A Rare, Recurrent, De Novo 14q32.2q32.31 Microdeletion of 1.1 Mb in a 20-Year-Old Female Patient with a Maternal UPD(14)-Like Phenotype and Intellectual Disability

We present a 20-year-old female patient from Indonesia with intellectual disability (ID), proportionate short stature, motor delay, feeding problems, microcephaly, facial dysmorphism, and precocious puberty who was previously screened normal for conventional karyotyping, fragile X testing, and subte...

Full beskrivning

Sparad:
Bibliografiska uppgifter
Huvudupphovsmän: Zada, Almira, Mundhofir, Farmaditya E. P., Pfundt, Rolph, Leijsten, Nico, Nillesen, Willy, Faradz, Sultana M. H., de Leeuw, Nicole
Materialtyp: Artigo
Språk:Inglês
Publicerad: Hindawi Publishing Corporation 2014
Ämnen:
Case Report
Länkar:https://ncbi.nlm.nih.gov/pmc/articles/PMC3985205/
https://ncbi.nlm.nih.gov/pubmed/24800088
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1155/2014/530134
Taggar: Lägg till en tagg
Inga taggar, Lägg till första taggen!

Liknande verk