Send to

Choose Destination
Prenat Diagn. 1995 Jun;15(6):579-84.

Uniparental isodisomy for chromosome 16 in a growth-retarded infant with congenital heart disease.

Author information

Duncan Guthrie Institute of Medical Genetics, Yorkhill NHS Trust, Glasgow, U.K.


We report a growth-retarded infant with congenital heart disease and maternal isodisomy for chromosome 16. Non-mosaic trisomy 16 was detected at mid-trimester chorionic villus sampling, performed because biochemical screening indicated an increased Down's syndrome risk. Further karyotyping analysis of the placenta, after delivery, showed a 50 per cent mosaic trisomy 16. The infant had an atrioventricular (A-V) canal defect, scoliosis, and several minor dysmorphic features. Although uniparental disomy for chromosome 16 has been reported previously, to our knowledge this is the first case of uniparental isodisomy for chromosome 16 which has been investigated with multiple DNA probes.

[Indexed for MEDLINE]

Supplemental Content

Full text links

Icon for Wiley
Loading ...
Support Center