TY - JOUR
T1 - The origin of inverted tandem duplications, and phenotypic effects of tandem duplication of the X chromosome long arm
AU - Van Dyke, D. L.
AU - Miller, M. J.
AU - Weiss, L.
PY - 1983
Y1 - 1983
N2 - Tandem repeats of chromosome material can arise as inverted or as direct duplications. Such duplications of the X chromosome are instructive regarding X-linked genetic determinants of phenotype. We describe a 40-year-old woman with a direct duplication Xq13.3 to Xq27.2, short stature, gonadal dysgenesis, and secondary amenorrhea. Comparison of her phenotype with that of two other women with a direct duplication of part of Xq confirms the existence of statural determinants within the region X13 to Xq21, determinants of ovarian function within X22 to X27, and the X inactivation center within or proximal to band Xq13.3. In humans, direct duplications are more frequent than inverted, but both forms are rare. The mean age of parents is normal in subjects with direct duplications, but is advanced in subjects with inverted duplications. An inverted duplication can arise from a three-break rearrangement that includes a U-type exchange; a similar origin (two breaks and a U-type exchange) and a parental age association can be postulated for dicentric inverted duplications including dicentric isochromosome X.
AB - Tandem repeats of chromosome material can arise as inverted or as direct duplications. Such duplications of the X chromosome are instructive regarding X-linked genetic determinants of phenotype. We describe a 40-year-old woman with a direct duplication Xq13.3 to Xq27.2, short stature, gonadal dysgenesis, and secondary amenorrhea. Comparison of her phenotype with that of two other women with a direct duplication of part of Xq confirms the existence of statural determinants within the region X13 to Xq21, determinants of ovarian function within X22 to X27, and the X inactivation center within or proximal to band Xq13.3. In humans, direct duplications are more frequent than inverted, but both forms are rare. The mean age of parents is normal in subjects with direct duplications, but is advanced in subjects with inverted duplications. An inverted duplication can arise from a three-break rearrangement that includes a U-type exchange; a similar origin (two breaks and a U-type exchange) and a parental age association can be postulated for dicentric inverted duplications including dicentric isochromosome X.
UR - http://www.scopus.com/inward/record.url?scp=0020607562&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=0020607562&partnerID=8YFLogxK
U2 - 10.1002/ajmg.1320150309
DO - 10.1002/ajmg.1320150309
M3 - Article
C2 - 6881211
AN - SCOPUS:0020607562
SN - 0148-7299
VL - 15
SP - 441
EP - 450
JO - American journal of medical genetics
JF - American journal of medical genetics
IS - 3
ER -