Characterization of a de novo 48,XX, + r(X), + r(17) by in situ hybridizatio in a patient with neurofibromatosis (NF1)
- 1 January 1993
- journal article
- case report
- Published by Wiley in American Journal of Medical Genetics
- Vol. 45 (1) , 22-24
- https://doi.org/10.1002/ajmg.1320450108
Abstract
We describe a patient with familial neurofibromatosis (NF1), short stature, developmental delay, and a de novo chromosome abnormality. In situ hybridization was done using chromosome specific centromere probes to characterize the karyotype as 46,XX/47, XX,+r(X) (p11q11)/47,XX,+r(17) (p11q11)/48, XX,+r(X) (p11q11),+r(17) (p11q11). The NF1 mutation, as well as each supernumerary ring chromosome, may have played a role in perturbing the normal developmental process of this patient.Keywords
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