Duplication 16q12----qter arising from 3:1 segregation in a 46,XX,t(13;16) (q12;q12) mother.
A congenitally abnormal female baby was found to have the karyotype 46, XX, +der (16) t (13; 16) (q12;q12) mat. GTG, QFQ, CBG, THA and Ag-NOR banding techniques allowed the identification of the abnormal chromosomes in the proposita and in the translocation carriers through three generations. Duplication 16q resulted from 3:1 segregation in the carrier mother. The hypothesis of a specific meiotic segregation for this translocation is discussed. The phenotypic effects of proximal 16q duplications are analysed together with other four reported cases, which have similar duplicated segment and no other relevant chromosomal abnormality.
Pérez-Castillo
A
A
Consejo Superior de Investigaciones Cientificas, Madrid, Espana.
Martin-Lucas
M A
MA
Abrisqueta
J A
JA
D000015:Abnormalities, Multiple / Q000235:genetics*; D000328:Adult; D002869:Chromosome Aberrations / Q000235:genetics*; D025063:Chromosome Disorders; D002882:Chromosomes, Human, Pair 13 / Q000648:ultrastructure*; D002885:Chromosomes, Human, Pair 16 / Q000648:ultrastructure*; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D010375:Pedigree; D010641:Phenotype; D011247:Pregnancy; D014178:Translocation, Genetic