title: Chromosome 9p deletion syndrome and sex reversal: novel findings and redefinition of the critically deleted regions.
abstract: Deletions of the short arm of chromosome 9 are associated with two distinct clinical entities. Small telomeric 9p24.3 deletions cause genital anomalies in male subjects, ranging from disorder of gonadal sex to genital differentiation anomalies, while large terminal or interstitial deletions result in 9p-malformation syndrome phenotype. The critical region for non-syndromic 46,XY sex reversal was assigned to a 1 Mb interval of chromosome 9p, extending from the telomere to the DMRT genes cluster. The 9p-syndrome was assigned to bands 9p22.3p24.1, but a phenotypic map has not been established for this condition, probably because of the lack of detailed molecular and/or phenotypic characterization, as well as frequent involvement of additional chromosome rearrangements. Here, we describe a unique patient with a small isolated 9p terminal deletion, characterized by array-CGH and FISH, who shows a complex phenotype with multiple physical anomalies, resembling the 9p-syndrome, disorder of sex development with gonadoblastoma, congenital heart defect and epilepsy. The observed deletion includes the 46,XY sex-reversal critical region, excluding the region so far associated with the 9p-syndrome. Genotype-phenotype correlations are tentatively established comparing our patient to seven other previously reported males with isolated terminal 9p deletions, finely defined at a molecular level. Our observations expand the 9p deletion clinical spectrum, and add significantly to the definition of a 9p-syndrome critical region.
authors: Department of Pediatrics, Catholic University School of Medicine, and Department Pediatric Surgery, San Camillo De Lellis Hospital, Rome, Italy.
authors: Roberta
authors: R
authors: Onesimo
authors: Daniela
authors: D
authors: Orteschi
authors: Maria
authors: M
authors: Scalzone
authors: Aurora
authors: A
authors: Rossodivita
authors: Lorenzo
authors: L
authors: Nanni
authors: Gian Franco
authors: GF
authors: Zannoni
authors: Giacinto
authors: G
authors: Marrocco
authors: Domenica
authors: D
authors: Battaglia
authors: Carlo
authors: C
authors: Fundarò
authors: Giovanni
authors: G
authors: Neri
mesh_terms: D058531:46, XX Testicular Disorders of Sex Development / Q000235:genetics*; D002872:Chromosome Deletion; D002899:Chromosomes, Human, Pair 9; D006801:Humans