Inverted tandem duplications in man are a rare form of structural rearrangements involving a single chromosome.1 We describe a patient with partial trisomy of chromosome 14 due to an inverted tandem duplication of the long arm.
CASE REPORT
The proband was a term product of a 24-year-old mother's second pregnancy. The first terminated in a miscarriage at six weeks. After the birth of the proband, the mother had two miscarriages at six weeks' gestation followed by two term pregnancies resulting in the delivery of normal female infants.
The proband was a male infant whose birth weight was 5 lb 0 oz.
Tandem duplication of bands g13.13g13.33 resulting in partial trisomy of long arm of chromosome 19
