Isolated lissencephaly sequence associated with a microdeletion at chromosome 17p13.

Abstract

DNA markers YNZ22.1, YNH37.3, 144D6 and VAW508 were studied in a patient with the isolated lissencephaly sequence (ILS). A normal karyotype was found in the patient. The DNA of the patient showed deletions of markers YNZ22.1 and YNH37.3. This is the first report of a case of ILS (with grade 3 lissencephaly) with a submicroscopic deletion. The presence of a microdeletion in 17p13 in an ILS patient indicates that Miller-Dieker syndrome and ILS have a common etiology.

• Authors: J F De Rijk-van Andel, C E Catsman-Berrevoets, D J Halley, E Wesby-van Swaay, M F Niermeijer, B A Oostra
• Journal: Human genetics (Hum Genet) Vol. 87 Issue 4 Pg. 509-10 (Aug 1991) ISSN: 0340-6717 [Print] Germany
• PMID: 1879837 (Publication Type: Case Reports, Journal Article)

Chemical References

• DNA

Topics

• Blotting, Southern
• Brain (abnormalities)
• Chromosome Deletion
• Chromosome Mapping
• Chromosomes, Human, Pair 17
• DNA (genetics)
• Female
• Humans
• Infant, Newborn
• Nucleic Acid Hybridization
• Pedigree