Prenatal diagnosis of del(9)(p24): A sex reverse case

Prenatal Diagnosis

Volumn 25, Issue 10, 2005, Pages 945-948

  Privitera, Orsola ^a   Vessecchia, Graziella ^a   Bernasconi, Barbara ^b,c   Bettio, Daniela ^b   Stioui, Sabine ^a   Giordano, Giovanna ^d  

^a Ospedale Civile di Legnano   (Italy)

^b HUMANITAS CLINICAL AND RESEARCH CENTER   (Italy)

^c UNIVERSITY OF INSUBRIA   (Italy)

^d UNIVERSITY OF PARMA   (Italy)

Author keywords

9p deletion; Fluorescence in situ hybridization; Sex reverse

Indexed keywords

ADULT; ARTICLE; AUTOPSY; CASE REPORT; CHROMOSOME 11; CHROMOSOME 7; CHROMOSOME 9; CHROMOSOME 9P; CHROMOSOME DELETION; CHROMOSOME SEGREGATION; CHROMOSOME TRANSLOCATION; CONTROLLED STUDY; DMRT1 GENE; DMRT2 GENE; FEMALE; FETUS; FETUS MALFORMATION; FLUORESCENCE IN SITU HYBRIDIZATION; GENE LOCATION; HUMAN; HUMAN CELL; HUMAN TISSUE; KARYOTYPE; MALE; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; SEX DIFFERENTIATION DISORDER; SRY GENE;

ABNORMALITIES, MULTIPLE; ADULT; CHROMOSOMES, HUMAN, PAIR 11; CHROMOSOMES, HUMAN, PAIR 7; CHROMOSOMES, HUMAN, PAIR 9; DNA-BINDING PROTEINS; FEMALE; GENE DELETION; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; KARYOTYPING; MALE; PREGNANCY; PRENATAL DIAGNOSIS; SEX REVERSAL, GONADAL; SEX-DETERMINING REGION Y PROTEIN; TRANSCRIPTION FACTORS; TRANSLOCATION, GENETIC;

EID: 27144498214     PISSN: 01973851     EISSN: None     Source Type: Journal    
DOI: 10.1002/pd.1250     Document Type: Article

References (29)

1. Bardoni B, Panaria E, Guioli S, et al. 1994. A dosage-sensitive locus at chromosome Xp21 is involved in male to female sex reversal. Nat Gent 7: 497-501.
2. Begleiter ML, Zalles C, Schwartz ID, Harris DJ, Pasztor LN. 1995. Multiple congenital anomalies and ambiguous genitalia in a child with trisomy 7q. Am J Hum Genet Suppl 57: A107.
3. Bennett CP, Docherty Z, Robb SA, Ramani P, Hawkins JR, Grant D. 1993. Deletion 9p in sex reversal. J Med Genet 30: 518-520.
4. Call KM, Glaser T, Ito CY, et al. 1990. Isolation and characterization of a zinc finger polypeptide gene at the human chromosome 11 Wilm's tumor locu. Cell 60: 509-520.
5. Chin SF, Daigo Y, Huang HE, et al. 2003. A simple and reliable protocol facilitates fluorescent in situ hybridisation on tissue microarrays of paraffin embedded tumor samples. Mol Pathol 56(5): 275-279.
6. Courtens W, Vroman S, Vandenhove J, Wiedemann U, Schinzel A. 2001. Pre- and perinatal findings in partial trisomy 7q resulting from balanced parental translocation t(7;21) and t(4;7). Prenat Diagn 21(8): 642-648.
7. Flejter WL, Fergestad J, Gorski J, Varvill T, Chandrasekharappa S. 1998. A gene involved in XY swx reversal is located on chromosome 9, distal to marker D9S1779. Am J Hum Genet 63: 794-802.
8. Foster JW, Dominiguez-Steglich MA, Guioli S, et al. 1994. Campomelic dysplasia and autosomal sex reversal caused by mutations in an SRY related gene. Nature 372: 525-530.
9. Fujita H, Abe T, Yamamoto K, Furuyama JI. 1974. Possible complex translocation t(9;14;13) in mother of a child with 9p- trisomy syndrome. Humangenetik 25: 83-92.
10. Guioli S, Schmitt K, Critcher R, et al. 1998. Molecular analysis of 9p deòetion associated with XY sex reversal: refining the localisation of a sex determining gene to the tip of the chromosome. Am J Hum Genet 63: 905-908.
11. Hengstschlager M, Bettelheim D, Repa C, Lang S, Deutinger J, Bernaschek G. 2002. A fetus with trisomy 9p and trisomy 10p originating from unbalanced segregation of maternal complex chromosome rearrangement (4;10;9). Fetal Diagn Ther 17: 243-246.
12. Hoo JJ, Salafsky IS, Lin CC, Pinsky L. 1989. Possible location of a recessive testis forming gene on 9p24. Am J Hum Genet Suppl 45: A78.
13. Huret JL, Leonard C, Forestier B, Rethore' MO, Lejeune J. 1988. Eleven new cases of del(9p) and features from 80 cases. J Med Genet 25: 741-749.
14. Johannesson R, Lohrs U, Passarge E. 1988. Pachytene analysis in male heterozygous for a familial translocation (9:12;13)(q22;q22; q23) ascertained through a child with partial trisomy 9. Cytogenet Cell Genet 47: 160-166.
15. Luo X, Ikeda Y, Parker KL. 1994. A cell-specific nuclear receptor essential for adrenal and gonadal development and sexual differentiation. Cell 77: 481-490.
16. McDonald MT, Flejter W, Sheldon S, Putzi MJ, Gorski JL. 1997. XY sex reversal and gonadal dysgenesis due to 9p24 monosomy. Am J Med Genet 73: 321-326.
17. Morava E, Bartsch O, Czako M, Frensel A, Kalscheuer V, Karteszi J, Kasztolanyi G. 2003. Small inherited terminal duplication of 7q with hydrocephalus, cleft palate, joint contractures, and severe hypotonia. Clin Dysmorphol 12: 123-127.
18. Muroya K, Okuyama T, Goishi K, et al. 2000. Sex determining gene(s) on distal 9p: clinical and molecular studies in six cases. J Clin Endocrinol Metab 85: 3094-3100.
19. Ogata T, Muroya K, Matsuo N, Hata J, Fukushima Y, Suzuki Y. 1997. Impaired male sex development in an infant with moleculary defined partial 9p monosomy: implications for a testis forming gene(s) on 9p. J Med Genet 34: 331-334.
20. Ottolenghi C, Veitia R, Barbieri M, Fellous M, McElreavey K. 2000. The human doublesex-related gene, DMRT2, is hologous to a gene involved in somitogenesis and encodes a potential bicistronic transcript. Genomics 64: 179-186.
21. Ounap K, Uibo O, Zordania R, et al. 2004. Three patients with 9p deletions including DMRT1 and DMRT2: a girl with XY complement, bilateral ovotestes and extreme growth retardation, and two female with normal pubertal development. Am J Med Genet 130A: 415-4423.
22. Pfeiffer RA, Rauch A, Trautmann U, et al. 1999. Defective sexual development in an infant with 46,XY,der(9)t(8;9)(q23.1;p23)mat. Eur J Pediatr 158: 213-216.
23. Raymond CS, Murphy MW, O'Sullivan MG, Bardwell VJ, Zarkower D. 2000. Dmrt1, a gene related to worm and fly sexsual regulators, is required for mammalian testis differentiation. Genes Dev 14: 2587-2595.
24. Raymond CS, Parker ED, Kettlewell JR, et al. 1999. A region of human chromosome 9p required for testis development contains two genes related to known sexual regulators. Hum Mol Genet 8: 989-996.
25. Rodriguez L, Lopez F, Paisan L, et al. 2002. Pure partial trisomy 7q: two new patients and review. Am J Med Genet 113(2): 218-224.
26. Shan Z, Zabel B, Trautmann U, et al. 2000. FISH mapping of the sex-reversal region on human chromosome 9p in two XY females and in primates. Eur J Hum Genet 8: 167-173.
27. Sinclair AH, Berta P, Palmer MS, et al. 1990. A gene from the human sex - determining region encodes a protein with omology to a conserved DNA-binding motif. Nature 346: 240-244.
28. Veitia RA, Nunes M, Quintana-Murci M, et al. 1998. Sweyer syndrome in 46,XY partial gonadal dysgenesis associated with 9p deletions in the absence of monosomy-9p syndrome. Am J Hum Genet 63: 901-905.
29. Vialard F, Ottolenghi C, Gonzales M, et al. 2002. Deletion of 9p associated with gonadal dysfunction in 46,XY but not in 46,XX fetuses. J Med Genet 39: 514-518.