Deletion of 9p associated with gonadal dysfunction in 46,XY but not in 46,XX human fetuses [6]

Journal of Medical Genetics

Volumn 39, Issue 7, 2002, Pages 514-518

  Vialard, F ^a   Ottolenghi, C ^a   Gonzales, M ^a   Choiset, A ^a   Girard, S ^a   Siffroi, J P ^a   McElreavey, K ^a   Vibert Guigue, C ^a   Sebaoun, M ^a   Joye N ^a   Portnoi M F ^a   Jaubert, F ^a   Fellous, M ^a  

^a INSTITUT PASTEUR   (France)

Author keywords

[No Author keywords available]

Indexed keywords

CHROMOSOME 9P; CHROMOSOME DELETION; FETUS; GENE DELETION; GENE EXPRESSION; GENE FUNCTION; GENE LOCUS; GENITAL MALFORMATION; GONAD DYSFUNCTION; HUMAN; KARYOTYPE 46,XX; KARYOTYPE 46,XY; LETTER; PRIORITY JOURNAL; SEX TRANSFORMATION; TESTIS DISEASE;

ABNORMALITIES, MULTIPLE; ABORTION, THERAPEUTIC; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 9; FEMALE; FETUS; GENITALIA; GESTATIONAL AGE; GONADAL DYSGENESIS, 46,XX; GONADAL DYSGENESIS, 46,XY; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; KARYOTYPING; MALE; PREGNANCY; PREGNANCY TRIMESTER, SECOND; PRENATAL DIAGNOSIS; SEX REVERSAL, GONADAL; TELOMERE; TESTIS;

EID: 18444375272     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Letter

References (10)

1. Eleven new cases of del(9p) and features from 80 cases
2. Swyer syndrome and 46,XY partial gonadal dysgenesis associated with 9p deletions in the absence of monosomy-9p syndrome
3. A gene involved in XY sex reversal is located on chromosome 9, distal to marker D9S1779
4. XY sex reversal and gonadal dysgenesis due to 9p24 monosomy
5. A new submicroscopic deletion that refines the 9p region for sex reversal
6. A region of human chromosome 9p required for testis development contains two genes related to known sexual regulators
7. The region on 9p associated with 46,XY sex reversal contains several transcripts expressed in the urogenital system and a novel doublesex-related domain
8. The human doublesex-related gene, DMRT2, is homologous to a gene involved in somitogenesis and encodes a potential bicistronic transcript
9. Dmrtl, a gene related to worm and fly sexual regulators, is required for mammalian testis differentiation
10. Sex-determining gene(s) on distal 9p: Clinical and molecular studies in six cases