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Campomelic dysplasia associated with a de novo 2q;17q reciprocal translocation.

A phenotypically female fetus with campomelic dysplasia and a de novo reciprocal translocation, 46,XY,t(2;17) (q35;q23-24), is presented. This is the second case of campomelic dysplasia in which a rearrangement involving the long arm of chromosome 17 has been identified, indicating that this is like...

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Bibliografiske detaljer
Udgivet i:J Med Genet
Main Authors: Young, I D, Zuccollo, J M, Maltby, E L, Broderick, N J
Format: Artigo
Sprog:Inglês
Udgivet: BMJ Publishing Group 1992
Fag:
Online adgang:https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC1015925/
https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/1583645/
https://ncbi.nlm.nih.govhttps://doi.org/10.1136/jmg.29.4.251
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