Uniparental isodisomy for chromosome 16 in a growth-retarded infant with congenital heart disease |
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| Authors: | Dr M L Whiteford J Coutts L Al-Roomi A Mather G Lowther A Cooke J I Vaughan G E Moore J L Tolmie |
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| Institution: | 1. Glasgow Royal Maternity Hospital, Rottenrow, Glasgow G4 0NA, U.K.;2. Duncan Guthrie Institute of Medical Genetics, Yorkhill NHS Trust, Yorkhill, Glasgow G3 8SJ, U.K.;3. Royal Postgraduate Medical School, Institute of Obstetrics and Gynaecology, Queen Charlotte's and Chelsea Hospital, London W6 0XG, U.K. |
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| Abstract: | 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. |
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| Keywords: | Maternal isodisomy chromosome 16 growth retardation A-V canal defect |
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