Holoprosencephaly and sacral agenesis in a fetus with a terminal deletion 7q36-->7qter.

We describe here a fetus with holoprosencephaly and signs of caudal deficiency sequence. Chromosome examination showed a de novo balanced reciprocal translocation (7;22) (q36;q11) with loss of the derivative chromosome 22 in 50% of the cells examined. The present report and available published data...

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Bibliographic Details
Published in:J Med Genet
Main Authors: Morichon-Delvallez, N, Delezoide, A L, Vekemans, M
Format: Artigo
Language:Inglês
Published: BMJ Publishing Group 1993
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Research Article
Online Access:https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC1016431/
https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/8326499/
https://ncbi.nlm.nih.govhttps://doi.org/10.1136/jmg.30.6.521
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