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Journal of Medical Genetics logoLink to Journal of Medical Genetics
. 1993 Jun;30(6):521–524. doi: 10.1136/jmg.30.6.521

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

N Morichon-Delvallez 1, A L Delezoide 1, M Vekemans 1
PMCID: PMC1016431  PMID: 8326499

Abstract

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 indicate that the terminal region of the long arm of chromosome 7 contains genes implicated in the development of the central nervous system and the caudal region.

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Selected References

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