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Features of trisomy 18 and 18p-syndromes in an infant with 46, XY, i(18q)
Authors:Harold N.  Bass   Robert S.  Sparkes Alvin A.  Miller
Affiliation:Department of Pediatrics, Kaiser-Permanente Medical Center, Panorama City, U.S.A.;UCLA Center for the Health Sciences, Los Angeles, California, U.S.A.
Abstract:An isochromosome for the long arm of chromosome number 18 - 46,XY,i(18q) - was found in an infant who had features of both trisomy 18 and 18p- syndromes. Findings compatible with trisomy 18 included postmature delivery, prominent occiput, severe congenital heart disease, overlapping fingers, and rocker-bottom feet. Those of 18p- syndrome, which frequently resembles Turner syndrome, were downward obliquity to the palpebral fissures, short, webbed neck, low posterior hairline, and widely-spaced nipples. The infant died of heart failure at 3.5 months of age. Parental karyotypes were normal.
Keywords:Chromosome 18    development retardation    Edwards syndrome    isochromosome 18    mental retardation    trisomy 18
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