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An analysis of common isodisomic regions in five mUPD 16 probands

Abu-Amero, SN; Ali, Z; Abu-Amero, KK; Stanier, P; Moore, GE; (1999) An analysis of common isodisomic regions in five mUPD 16 probands. J MED GENET , 36 (3) 204 - 207.

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Abstract

Intrauterine growth retardation (IUGR) with or without additional abnormalities is recognised as a common feature of maternal uniparental disomy for chromosome 16 (mUPD 16) and is usually associated with confined placental mosaicism (CPM). Although it is likely that the CPM largely contributes to the IUGR, postnatal growth retardation and other common abnormalities may also be attributed to the mUPD. Five cases with mUPD 16 and CPM were analysed for common regions of isodisomy using polymorphic markers distributed along the length of the chromosome. In each case the aberration was consistent with a maternal meiosis I error. Complete isodisomy was not detected in any of the patients although two patients were found to be mixed with both iso- and heterodisomy. Interestingly, the patient with the greater region of isodisomy was the most severely affected. The fact that there were no common regions of isodisomy in any of the patients supports the hypothesis that imprinted genes, rather than recessive mutations, may play a role in the shared phenotypes.

Type: Article
Title: An analysis of common isodisomic regions in five mUPD 16 probands
Keywords: IUGR, mUPD, heterodisomy, isodisomy, CONFINED PLACENTAL MOSAICISM, UNIPARENTAL DISOMY, GROWTH-RETARDATION, PRENATAL-DIAGNOSIS, FETAL DEVELOPMENT, CHROMOSOME-16, TRISOMY, DISEASE
UCL classification: UCL > School of Life and Medical Sciences
UCL > School of Life and Medical Sciences > Faculty of Life Sciences
UCL > School of Life and Medical Sciences > Faculty of Life Sciences > Biosciences (Division of) > Genetics, Evolution and Environment
UCL > School of Life and Medical Sciences > Faculty of Population Health Sciences > Institute of Child Health
UCL > VP International
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URI: http://discovery.ucl.ac.uk/id/eprint/92053
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