title: Defective sexual development in an infant with 46, XY, der(9)t(8;9)(q23.1;p23)mat.
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.
  
  
  CONCLUSIONS
  This observation lends further support to the hypothesis that genetic factors are located at 9p23-ter which are involved in normal sex determination.
authors: Institut für Humangenetik, Universität Erlangen-Nürnberg, Erlangen, Germany. RAPFEIFF@humangenetik.uni.erlangen.de
authors: R A
authors: RA
authors: Pfeiffer
authors: A
authors: A
authors: Rauch
authors: U
authors: U
authors: Trautmann
authors: H G
authors: HG
authors: Dörr
authors: O
authors: O
authors: Hiort
authors: G
authors: G
authors: Scherer
authors: G
authors: G
authors: Rösch
authors: T
authors: T
authors: Papadopoulos
authors: K
authors: K
authors: v d Hardt
authors: E
authors: E
authors: Lachmann
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics; D002872:Chromosome Deletion; D002898:Chromosomes, Human, Pair 8; D002899:Chromosomes, Human, Pair 9; D020440:Gene Duplication; D006061:Gonadal Dysgenesis, 46,XY / Q000150:complications* / Q000235:genetics; D006801:Humans; D007223:Infant; D007621:Karyotyping; D008297:Male; D014314:Trisomy