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Pericentric inversion of chromosome 19: prenatal diagnosis and genetic counselling
Author(s) -
Tharapel Avirachan T.,
Ward Jewell C.,
Wiggins Lee,
Wilroy R. Sid
Publication year - 1986
Publication title -
prenatal diagnosis
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.956
H-Index - 97
eISSN - 1097-0223
pISSN - 0197-3851
DOI - 10.1002/pd.1970060111
Subject(s) - chromosomal inversion , prenatal diagnosis , genetic counseling , genetics , chromosome , medicine , karyotype , obstetrics , biology , pregnancy , fetus , gene
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.