PMID: 9556294Apr 29, 1998Paper

Chromosome 18q paracentric inversion in a family with mental retardation and hearing loss

American Journal of Medical Genetics
K M Keppler-NoreuilR J Leach

Abstract

We report on a mother and child with a paracentric inversion of the long arm of chromosome 18: 46,XX,inv(18)(q21.1q23). The child had findings in common with those seen in 18q- syndrome including: microcephaly, epicanthal folds, midface hypoplasia, and abnormally modeled ears, dermatoglyphic whorls on fingertips, clubfeet, hearing loss, and developmental delay. The mother and several maternal relatives had mild mental retardation and hearing loss. Magnetic resonance imaging of the child's brain showed abnormal myelination. Molecular studies including PCR-based markers for the MBP locus and fluorescent in situ hybridization with a P1 genomic clone on mother and child demonstrated only one copy of the MBP locus (18q23) with the deletion extending beyond the MBP locus. Therefore, the deletion in the MBP region may account for the abnormal myelination seen in the patient. The other clinical findings, including mental retardation and hearing loss in this family, may reflect disruption of distal or proximal genes within the deleted MBP region or at the more proximal breakpoint 18q21.1, and may represent a contiguous gene syndrome. Further study of this family may help define those genes functioning in the MBP region that contribute t...Continue Reading

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Citations

Sep 16, 2014·Studies in History and Philosophy of Biological and Biomedical Sciences·Daniel J Nicholson
Nov 19, 2014·Journal of Genetic Counseling·Bridgette SoileauJannine D Cody
Feb 14, 2012·Studies in History and Philosophy of Biological and Biomedical Sciences·Nima Bassiri
Jun 26, 2007·Developmental Biology·Nathalie CoréLaurent Fasano

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