Microdeletions of chromosome 17p13 as a cause of isolated lissencephaly
- Baylor Coll. of Medicine, Houston, TX (United States)
- Indiana Univ., Indianapolis (United States)
Lissencephaly (agyria-pachygyria) is a brain malformation manifested by a smooth cerebral surface, resulting from arrest of neuronal migration at 10-14 wk gestation. Type I, or classical, lissencephaly can occur either in association with the Miller-Dieker syndrome (MDS) or as an isolated finding, termed isolated lissencephaly sequence (ILS). About 90% of MDS patients have visible or submicroscopic deletions of 17p13.3. The authors therefore investigated the possibility that some ILS patients have smaller deletions in this chromosomal region. Forty-five ILS patients with gyral abnormalities ranging from complete agyria to mixed agyria/pachygyria and complete pachygyria were studied. RFLP analysis with five polymorphic loci in 17p13.3 was performed on all patients and their parents. Somatic cell hybrids were constructed on three patients, to confirm a deletion or to determine the boundaries of a deletion. These data demonstrate that a locus on 17p13 represents a major genetic etiology for patients with lissencephaly, ranging from complete agyria to pachygyria. In situ hybridization allows rapid and sensitive deletion detection and is the preferred method for diagnostic evaluation of MDA and ILS patients.
- OSTI ID:
- 5268765
- Journal Information:
- American Journal of Human Genetics; (United States), Vol. 50:1; ISSN 0002-9297
- Country of Publication:
- United States
- Language:
- English
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CEREBRUM
CONGENITAL MALFORMATIONS
HEREDITARY DISEASES
ETIOLOGY
HUMAN CHROMOSOME 17
CHROMOSOMAL ABERRATIONS
DNA HYBRIDIZATION
PATIENTS
BODY
BRAIN
CENTRAL NERVOUS SYSTEM
CHROMOSOMES
DISEASES
HUMAN CHROMOSOMES
HYBRIDIZATION
MALFORMATIONS
MUTATIONS
NERVOUS SYSTEM
ORGANS
PATHOLOGICAL CHANGES
550400* - Genetics