RT Journal Article
SR Electronic
T1 A complex chromosome rearrangement with 10 breakpoints: tentative assignment of the locus for Williams syndrome to 4q33----q35.1.
JF Journal of Medical Genetics
JO J Med Genet
FD BMJ Publishing Group Ltd
SP 253
OP 255
DO 10.1136/jmg.29.4.253
VO 29
IS 4
A1 R Tupler
A1 P Maraschio
A1 A Gerardo
A1 R Mainieri
A1 G Lanzi
A1 L Tiepolo
YR 1992
UL http://jmg.bmj.com/content/29/4/253.abstract
AB An unbalanced complex chromosome rearrangement with 10 breakpoints resulting in four derivative chromosomes (1, 2, 4, and 11) was found in a girl with severe phenotypic abnormalities, many of which are characteristic of Williams syndrome. The patient was monosomic for the region 4q33----q35.1 and thus the mapping of the syndrome could tentatively be restricted to this region.