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Article

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

American journal of medical genetics - 13 Apr 1998

Keppler-Noreuil K M, Carroll A J, Finley S C, Descartes M, Cody J D, DuPont B R, Gay C T, Leach R J

Abstract excerpt

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...

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PMID: 9556294
DOI: 10.1002/(sici)1096-8628(19980413)76:5<372::aid-ajmg2>3.0.co;2-p

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MBP

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