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Inherited 13/14 translocation and meta‐centric microchromosome associated with trisomy 21: Report of 2 cases
Author(s) -
LeddetChevallier Isabelle,
Sparkes Robert S.
Publication year - 1983
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.1983.tb00451.x
Subject(s) - chromosomal translocation , trisomy , microchromosome , genetics , biology , aneuploidy , karyotype , chromosome , phenotype , gene
Inherited chromosome abnormalities were found in two unrelated boys with Down syndrome. One patient showed trisomy 21 and a 13/14 translocation which was also present in his mother and three other family members. The other boy had a bisatellited metacentric microchromosome in addition to trisomy 21. The small marker chromosome was found in three generations in the family. In both cases, the carriers had a normal phenotype. The significance of aneuploidy and the presence of inherited karyotypic changes is discussed.