Gross congenital abnormality associated with an apparently balanced chromosomal translocation t(9;17)(q34;q11)

Gross mental and physical abnormality is described in an adult female who had some features similar to those of Ehlers-Danlos syndrome. There was no family history of the disorder. The patient also carried a balanced chromosomal translocation t(9;17)(q34;q11).

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Bibliographic Details
Main Authors: Dockery, Heather E, Neale, H C, Fitzgerald, P H
Format: Artigo
Language:Inglês
Published: 1982
Subjects:
Case Reports
Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC1048927/
https://ncbi.nlm.nih.gov/pubmed/7143393
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