Different proximal and distal rearrangements of chromosome 7q associated with holoprosencephaly

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....

Full description

Saved in:
Bibliographic Details
Published in:Journal of medical genetics 1997-11, Vol.34 (11), p.899-903
Main Authors: Benzacken, B, Siffroi, J P, Le Bourhis, C, Krabchi, K, Joyé, N, Maschino, F, Viguié, F, Soulié, J, Gonzales, M, Migné, G, Bucourt, M, Encha-Razavi, F, Carbillon, L, Taillemite, J L
Format: Article
Language:English
Subjects:
Amniocentesis
Biological and medical sciences
Chromosome aberrations
Chromosomes, Human, Pair 7
Female
Gene Rearrangement
Holoprosencephaly - genetics
Holoprosencephaly - physiopathology
Humans
Medical genetics
Medical sciences
Pregnancy
Translocation, Genetic
Ultrasonography, Prenatal
Citations: Items that this one cites
Items that cite this one
Online Access:Get full text
Tags: Add Tag
No Tags, Be the first to tag this record!
Description
Summary: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.
ISSN:0022-2593
1468-6244
1468-6244
DOI:10.1136/jmg.34.11.899