Abstract
A 4 yr old girl with severe mental retardation and multiple congenital abnormalities manifested 'partial trisomy 15'. Her mother, pregnant at the time of examination, possessed a balanced translocation which, with the use of banding techniques, was identified as t(4;15)(p16;q22). Amniocentesis revealed the karyotype of the fetus to be identical to that of the proposita and a therapeutic abortion was performed. Prenatal investigation of a subsequent pregnancy revealed a normal male karyotype. By comparison of the proposita and an aborted fetus of this family with the other 5 reported cases of 'partial trisomy 15', a precise recognizable clinical syndrome could not be determined.
Original language | English |
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Pages (from-to) | 99-103 |
Number of pages | 5 |
Journal | Annales de Genetique |
Volume | 18 |
Issue number | 2 |
State | Published - 1975 |
Externally published | Yes |