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Maternal uniparental disomy of chromosome 2 in a baby with trisomy 2 mosaicism in amniotic fluid culture

✍ Scribed by Harrison, Kathleen ;Eisenger, Katerina ;Anyane-Yeboa, Kwame ;Brown, Stephen

Publisher
John Wiley and Sons
Year
1995
Tongue
English
Weight
521 KB
Volume
58
Category
Article
ISSN
0148-7299

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✦ Synopsis

Abstract

We describe the first case of a baby with maternal uniparental disomy of chromosome 2. Growth failure, hypothyroidism, and hyaline membrane disease were present at birth, and the first year of life was complicated by bronchopulmonary dysplasia. At age 14 months, motor and intellectual development were normal, but growth remained below the 10th centile. The baby was investigated for uniparental disomy because trisomy 2 mosaicism had been detected in a second trimester amniocentesis. This is the first reported case in which amniotic fluid chromosome mosaicism has been associated with uniparental disomy. Implications for prenatal diagnosis are considered. Β© 1995 Wiley‐Liss, Inc.

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