TY - JOUR
T1 - Observation of a parental inversion variant in a rare Williams-Beuren syndrome family with two affected children
AU - Scherer, Stephen W.
AU - Gripp, Karen W.
AU - Lucena, Jaume
AU - Nicholson, Linda
AU - Bonnefont, Jean Paul
AU - Pérez-Jurado, Luis A.
AU - Osborne, Lucy R.
N1 - Funding Information:
Acknowledgements This work was supported by grants from the Canadian Institutes of Health Research (CIHR), Sick Kids Foundation, the Spanish Ministries of Health and Science and Technology and Genome Canada/Ontario Genomics Institute and Genome Spain. S.W.S. is a CIHR Investigator and an International Scholar of the Howard Hughes Medical Institute and L.R.O. is a CIHR Scholar. We thank the patients and their families for their participation.
PY - 2005/8
Y1 - 2005/8
N2 - The Williams-Beuren syndrome (WBS) region at 7q11.23 is subject to several genomic rearrangements, one of which, the WBSinv-1 variant, is an inversion polymorphism. The WBSinv-1 chromosome has been shown to occur frequently in parents of individuals with WBS, implying that it predisposes the region to the WBS deletion. Here we investigate two WBS families with multiple affected children, and show that in one family, both siblings have a deletion on a WBSinv-1 chromosome background that arose due to interchromosomal recombination. These results suggest that the two WBS deletions in this family were independent events, and that there is likely a significant increase in the risk of deletion of the WBS region associated with the WBSinv-1 chromosome. The rarity of multiplex WBS families would suggest that the overall risk of having a child with WBS is still relatively low; however, families with an existing member with WBS may choose to opt for WBSinv-1 testing and genetic counseling.
AB - The Williams-Beuren syndrome (WBS) region at 7q11.23 is subject to several genomic rearrangements, one of which, the WBSinv-1 variant, is an inversion polymorphism. The WBSinv-1 chromosome has been shown to occur frequently in parents of individuals with WBS, implying that it predisposes the region to the WBS deletion. Here we investigate two WBS families with multiple affected children, and show that in one family, both siblings have a deletion on a WBSinv-1 chromosome background that arose due to interchromosomal recombination. These results suggest that the two WBS deletions in this family were independent events, and that there is likely a significant increase in the risk of deletion of the WBS region associated with the WBSinv-1 chromosome. The rarity of multiplex WBS families would suggest that the overall risk of having a child with WBS is still relatively low; however, families with an existing member with WBS may choose to opt for WBSinv-1 testing and genetic counseling.
UR - http://www.scopus.com/inward/record.url?scp=23944514580&partnerID=8YFLogxK
U2 - 10.1007/s00439-005-1325-9
DO - 10.1007/s00439-005-1325-9
M3 - Article
C2 - 15933846
AN - SCOPUS:23944514580
VL - 117
SP - 383
EP - 388
JO - Human Genetics
JF - Human Genetics
SN - 0340-6717
IS - 4
ER -