ISSN:
1432-1076
Keywords:
Key words Deletion 9p
;
Duplication 8q
;
Defective male sexual morphogenesis
Source:
Springer Online Journal Archives 1860-2000
Topics:
Medicine
Notes:
Abstract 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.
Type of Medium:
Electronic Resource
URL:
http://dx.doi.org/10.1007/s004310051052
Permalink