Partial trisomy 3q causing mild Cornelia de Lange phenotype.

A brother and sister are reported with developmental delay and facial features suggestive of the Cornelia de Lange syndrome. Cytogenetic analysis showed them to be trisomic for the region 3q25.1-26.2 because of the inheritance of an unbalanced interchromosomal insertion from their father, who was a...

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Bibliographische Detailangaben
Hauptverfasser: Holder, S E, Grimsley, L M, Palmer, R W, Butler, L J, Baraitser, M
Format: Artigo
Sprache:Inglês
Veröffentlicht: 1994
Schlagworte:
Research Article
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC1049680/
https://ncbi.nlm.nih.gov/pubmed/8182724
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