Pentasomy X: report of patient and studies of X-inactivation.


A five-year-old girl presented with mental retardation (MR), microcephaly, short stature, ptosis, malocclusion, abnormal elbows, fifth finger clinodactyly, joint hyperextensibility in hands and feet, renal hypoplasia, nonobstructive ureteral stasis, pyelonephritis, and renal failure. Five X chromosomes (49,XXXXX) were found in all peripheral blood… (More)


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@article{Funderburk1981PentasomyXR, title={Pentasomy X: report of patient and studies of X-inactivation.}, author={Steve J. Funderburk and M. Valente and Ivana J. Klisak}, journal={American journal of medical genetics}, year={1981}, volume={8 1}, pages={27-33} }