A complex chromosome rearrangement with 10 breakpoints: tentative assignment of the locus for Williams syndrome to 4q33----q35.1.
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.
Tupler
R
R
Biologia Generale e Genetica Medica, University of Pavia, Italy.
Maraschio
P
P
Gerardo
A
A
Mainieri
R
R
Lanzi
G
G
Tiepolo
L
L
D000015:Abnormalities, Multiple / Q000235:genetics*; D001921:Brain / Q000002:abnormalities; D002675:Child, Preschool; D002869:Chromosome Aberrations; D002874:Chromosome Mapping; D002894:Chromosomes, Human, Pair 4; D005145:Face / Q000002:abnormalities*; D005260:Female; D006330:Heart Defects, Congenital / Q000235:genetics; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics; D007621:Karyotyping; D009006:Monosomy; D013577:Syndrome