Uniparental Disomy - History

History

The first clinical case of UPD was reported in 1988 and involved a girl with cystic fibrosis and unusually short stature who carried two copies of maternal chromosome 7. Since 1991, out of the 47 possible disomies, 29 have been identified among individuals ascertained for medical reasons. This includes Chromosome 2, 5-11, 13-16, 21 and 22.

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