A mentally retarded child with characteristic facial features (flat facial profile, oblique palpebral fissures, low-bridged nose, epicanthal fold, enlarged tongue protruding through the opened mouth) was examined
A karyogamy contained 46 chromosomes, but there was a 14;21 translocation in both the child and the mother. Cytogenetic studies should be performed on the fetus in the next pregnancy because
A. all subsequent children will have this syndrome
B. approximately 75% of future children will be affected
C. approximately 50% of future children will be affected
D. the incidence of this syndrome is higher if the mother is the carrier of translocation
E. the incidence of this syndrome is higher if the father is the carrier of translocation
D
This child has Down syndrome related to robertsonian translocation of chromosome 21 to chromosome 14 . Recurrence of this form of Down syndrome in future offspring of the same couple is higher if the mother is the carrier of translocation (15%) than if the father is the carrier (1%).
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