A further case of the recurrent 15q24 microdeletion syndrome, detected by array CGH

We report on a 10-year-old patient with developmental delay, craniofacial dysmorphism, digital and genital abnormalities. In addition, muscular hypotonia, strabism, and splenomegaly were observed; inguinal and umbilical hernias were surgically corrected. Mucopolysaccharidoses and CDG syndromes could...

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Détails bibliographiques
Auteurs principaux: Klopocki, Eva, Graul-Neumann, Luitgard M., Grieben, Ulrike, Tönnies, Holger, Ropers, Hans-Hilger, Horn, Denise, Mundlos, Stefan, Ullmann, Reinhard
Format: Artigo
Langue:Inglês
Publié: Springer-Verlag 2007
Sujets:
Original Paper
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC2757600/
https://ncbi.nlm.nih.gov/pubmed/17932688
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s00431-007-0616-7
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