Pericentric inversion of chromosome 19: prenatal diagnosis and genetic counselling |
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Authors: | Avirachan T Tharapel PhD Jewell C Ward Lee Wiggins R Sid Wilroy Jr |
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Institution: | Department of Pediatrics and Child Development Center, University of Tennessee Center for the Health Sciences, 711 Jefferson Avenue, Memphis, TN 38163, U.S.A. |
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Abstract: | During prenatal diagnosis for advanced maternal age, a pericentric inversion of a chromosome 19 was detected in a male fetus. The inversion was familial, transmitted to the fetus by the phenotypically normal mother. The pregnancy resulted in a term birth of a phenotypically normal male infant. Inversion 19 appears to be a rare abnormality with only seven families reported thus far including ours. Infants with duplication deficiencies for chromosome 19 have not been reported in these families. This may suggest an apparent suppression of crossing over and recombination within the inverted segment of chromosome 19 during meiosis. |
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Keywords: | Pericentric inversion Chromosome 19 Prenatal diagnosis Genetic counselling |
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