title: Different proximal and distal rearrangements of chromosome 7q associated with holoprosencephaly.
abstract: Four new cases of holoprosencephaly are described in fetuses exhibiting abnormal karyotypes with different distal and proximal rearrangements of the long arm of chromosome 7. Three of them showed terminal deletions of chromosome 7q, confirming the importance of the 7q36 region in holoprosencephaly. The karyotype of the fourth fetus showed an apparently balanced de novo translocation, t(7;13) (q21.2;q33), without any visible loss of the distal part of chromosome 7q. The involvement of new genes, different from the human Sonic Hedgehog gene (hShh) responsible for holoprosencephaly, or a positional effect are discussed.
authors.affiliation: Laboratoire d'Histologie, Embryologie, Cytogénétique et Biologie de la Reproduction, Hôpital Jean Verdier, Bondy, France.
authors.forename: B
authors.initials: B
authors.lastname: Benzacken
authors.forename: J P
authors.initials: JP
authors.lastname: Siffroi
authors.forename: C
authors.initials: C
authors.lastname: Le Bourhis
authors.forename: K
authors.initials: K
authors.lastname: Krabchi
authors.forename: N
authors.initials: N
authors.lastname: Joyé
authors.forename: F
authors.initials: F
authors.lastname: Maschino
authors.forename: F
authors.initials: F
authors.lastname: Viguié
authors.forename: J
authors.initials: J
authors.lastname: Soulié
authors.forename: M
authors.initials: M
authors.lastname: Gonzales
authors.forename: G
authors.initials: G
authors.lastname: Migné
authors.forename: M
authors.initials: M
authors.lastname: Bucourt
authors.forename: F
authors.initials: F
authors.lastname: Encha-Razavi
authors.forename: L
authors.initials: L
authors.lastname: Carbillon
authors.forename: J L
authors.initials: JL
authors.lastname: Taillemite
mesh_terms: D000649:Amniocentesis; D002897:Chromosomes, Human, Pair 7; D005260:Female; D015321:Gene Rearrangement; D016142:Holoprosencephaly / Q000235:genetics* / Q000503:physiopathology; D006801:Humans; D011247:Pregnancy; D014178:Translocation, Genetic; D016216:Ultrasonography, Prenatal