Molecular cytogenetic analysis of patients with holoprosencephaly and structural rearrangements of 7q.
The holoprosencephaly (HPE) sequence is a malformation complex with abnormal midline cleavage of the embryonic forebrain. HPE is genetically heterogeneous with at least 6 different chromosome regions containing genes involved in the expression of the phenotype. HPE3, recently identified as the human Sonic hedgehog gene, is localized to 7q36. We have used fluorescence in situ hybridization (FISH) and polymerase chain reaction (PCR) amplification in 5 cell lines from patients with HPE (3 cases), HPE and sacral agenesis (1 case), and microcephaly (1 case) to further define the structural rearrangements of the long arm of chromosome 7 in each case. All cell lines demonstrated loss of material in the critical region of HPE3 at band 7q36, which includes the Sonic hedgehog gene. We report here the analysis of these patient cell lines.
Vance
G H
GH
Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis 46202-5251, USA. gvance@medgen.iupui.edu
Nickerson
C
C
Sarnat
L
L
Zhang
A
A
Henegariu
O
O
Morichon-Delvallez
N
N
Butler
M G
MG
Palmer
C G
CG
D002460:Cell Line; D002869:Chromosome Aberrations; D002872:Chromosome Deletion; D002882:Chromosomes, Human, Pair 13 / Q000235:genetics; D002892:Chromosomes, Human, Pair 22 / Q000235:genetics; D002897:Chromosomes, Human, Pair 7 / Q000235:genetics*; D003582:Cytogenetics; D005260:Female; D005819:Genetic Markers; D053823:Hedgehog Proteins; D016142:Holoprosencephaly / Q000235:genetics*; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007223:Infant; D007231:Infant, Newborn; D007621:Karyotyping; D008297:Male; D009030:Mosaicism; D016133:Polymerase Chain Reaction; D011506:Proteins / Q000235:genetics; D015534:Trans-Activators; D014178:Translocation, Genetic
D005819:Genetic Markers; D053823:Hedgehog Proteins; D011506:Proteins; C509239:SHH protein, human; D015534:Trans-Activators