Translocation 9q/13q resulting in duplication (trisomy 9pter→9q22) and deficiency (monosomy 13pter→13q12)
- 1 January 1977
- journal article
- research article
- Published by Wiley in Clinical Genetics
- Vol. 11 (1) , 46-52
- https://doi.org/10.1111/j.1399-0004.1977.tb01277.x
Abstract
A profoundly retarded, 12‐year‐old female is described. Her phenotype is compatible with the clinical features of the trisomy 9p syndrome. Cytogenetic analyses showed her to be trisomic for 9pter→9q22 and monosomic for 13pter→13q12, as the result of adjacent‐2 segregation during meiosis in her mother. The family pedigree shows this (9;13) translocation to be present in at least three generations.This publication has 18 references indexed in Scilit:
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