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Pseudotrisomy 13 and autosomal recessive holoprosencephaly.

Two sibs, diagnosed prenatally, had holoprosencephaly, midface hypoplasia, and normal chromosomes. The first fetus also had polydactyly. This sibship may represent an example of autosomal recessive pseudotrisomy 13. IMAGES:

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Détails bibliographiques
Publié dans:J Med Genet
Auteurs principaux: Seller, M J, Chitty, L S, Dunbar, H
Format: Artigo
Langue:Inglês
Publié: BMJ Publishing Group 1993
Sujets:
Accès en ligne:https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC1016613/
https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/8301659/
https://ncbi.nlm.nih.govhttps://doi.org/10.1136/jmg.30.11.970
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