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J Med Genet. 1993 Jun;30(6):521-4.

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

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1
Service d'Histologie, Embryologie et de Cytogénétique, Hôpital Necker-Enfants, Malades, Paris, France.

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.

PMID:
8326499
PMCID:
PMC1016431
[Indexed for MEDLINE]
Free PMC Article
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