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Updated: Aug 27, 2026

FISH for Pre-implantation Genetic Diagnosis
Published on: February 23, 2011
Defective sexual development in an infant with 46, XY, der(9)t(8;9)(q23.1;p23)mat
R A Pfeiffer1, A Rauch, U Trautmann
1Institut für Humangenetik, Universität Erlangen-Nürnberg, Erlangen, Germany. RAPFEIFF@humangenetik.uni.erlangen.de
Unlabelled:
We report on a male infant with ambiguous genitalia (scrotal hypospadias, sinus urogenitalis) trisomic for 8q23-ter and monosomic for 9p23-ter, who shared craniofacial and other abnormalities with either phenotype. Gonadal histology was nearly normal for age. Normal endocrinological findings and exclusion of mutations in SRY, androgen receptor and alpha-reductase genes point to supplementary gene(s) located in 9p2305-ter, haplo-insufficiency (by deletion) of which is expected to cause defective male morphogenesis.
Conclusion:
This observation lends further support to the hypothesis that genetic factors are located at 9p23-ter which are involved in normal sex determination.
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