title: Holoprosencephaly and sacral agenesis in a fetus with a terminal deletion 7q36-->7qter.
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.
authors.affiliation: Service d'Histologie, Embryologie et de Cytogénétique, Hôpital Necker-Enfants, Malades, Paris, France.
authors.forename: N
authors.initials: N
authors.lastname: Morichon-Delvallez
authors.forename: A L
authors.initials: AL
authors.lastname: Delezoide
authors.forename: M
authors.initials: M
authors.lastname: Vekemans
mesh_terms: D002872:Chromosome Deletion; D002892:Chromosomes, Human, Pair 22; D002897:Chromosomes, Human, Pair 7; D005315:Fetal Diseases / Q000000981:diagnostic imaging / Q000235:genetics*; D016142:Holoprosencephaly / Q000235:genetics*; D006801:Humans; D008297:Male; D012447:Sacrum / Q000002:abnormalities*; D014178:Translocation, Genetic; D014463:Ultrasonography