Uniparental Disomy (UPD) in Clinical Genetics by Thomas Liehr

Author:Thomas Liehr
Language: eng
Format: epub
Publisher: Springer Berlin Heidelberg, Berlin, Heidelberg

gene CLCN1 in 7q34: Recessive myotonia congenita (Liehr 2014c).

For a summary, see also Fig. 5.2.

Fig. 5.2Localization of iUPD leading to recessive gene mutation activation are marked by arrowheads along chromosomes 7 to 12. iUPDmat and iUPDpat are depicted separately. Chromosomes are drawn according to Kosyakova et al. (2009)

5.7.2.2 Clinical Consequences of UPD(7)mat Due to Partial Chromosomal Imbalance

Proven trisomic rescue and UPD(7)mat leading to SRS has been reported repeatedly. The trisomy could be reduced to tissue-specific (e.g. placenta) mosaics or sSMC (Liehr 2014c, d).

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