Molecular cytogenetic analysis of patients with holoprosencephaly and structural rearrangements of 7q

Gail H. Vance, Catherine Nickerson, Lauren Sarnat, Aiwu Zhang, Octavian Henegariu, Nicole Morichon-Delvallez, Merlin G. Butler, Catherine G. Palmer

Research output: Contribution to journalArticle

11 Scopus citations

Abstract

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.

Original languageEnglish (US)
Pages (from-to)51-57
Number of pages7
JournalAmerican journal of medical genetics
Volume76
Issue number1
DOIs
StatePublished - Feb 26 1998

Keywords

  • Brain malformation
  • Chromosome 7
  • Fluorescence in situ hybridization
  • Holoprosencephaly

ASJC Scopus subject areas

  • Genetics(clinical)

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