Clinical management and molecular cytogenetic characterization in a 45,X/46,X,idic(Yp) patient with severe hypospadia

Journal of Pediatric Surgery

Volumn 38, Issue 8, 2003, Pages 1258-1262

  Marrocco, G ^a   Poscente, M ^b   Majore, S ^b   De Bernardo, C ^a   Rinaldi, R ^a   Del Porto, G ^b   Storniello, G ^b   Grammatico, P ^b  

^a SAN CAMILLO FORLANINI HOSPITAL   (Italy)

^b SAPIENZA UNIVERSITY OF ROME   (Italy)

Author keywords

Ambiguous genitalia; Chromosome Y; Fluorescence in situ hybridization; Gonadoblastoma; Intersex disorders; Isodicentric Y

Indexed keywords

ARTICLE; CANCER RISK; CASE REPORT; CHROMOSOME YP; CLINICAL FEATURE; CRYPTORCHISM; CYTOGENETICS; DISEASE ASSOCIATION; DISEASE SEVERITY; DNA DETERMINATION; EMBRYONIC STRUCTURES; EVALUATION; FLUORESCENCE IN SITU HYBRIDIZATION; GENETIC ANALYSIS; GENITAL MALFORMATION; GONADAL AGENESIS; HERMAPHRODITISM; HISTOPATHOLOGY; HORMONE DETERMINATION; HUMAN; HUMAN TISSUE; HYPOSPADIAS; INFANT; KARYOTYPE; KARYOTYPE 45,X; KARYOTYPE 46,X; KARYOTYPING; MALE; MOSAICISM; MUELLERIAN DUCT; PATIENT EDUCATION; PRIORITY JOURNAL; RISK ASSESSMENT; SEX ALLOCATION; SEX DETERMINATION; TESTIS BIOPSY; TESTIS DISEASE; X CHROMOSOME;

EID: 0041358833     PISSN: 00223468     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0022-3468(03)00284-7     Document Type: Article

References (23)

1. Lilford RJ, Dear PR: The intersex baby. Br J Hosp Med 28:30-34, 1987
2. American Academy of Pediatrics: Evaluation of the newborn with developmental anomalies of the external genitalia. Pediatrics 106:138-142, 2000
3. Smith YR, Stetten G, Charity L, et al: Ambiguous genitalia in an elderly woman with a mosaic 45,X/46,X,dic(Y) (q11.2) karyotype. Urology 47:259-262, 1996
4. Kelly TE, Franko JB, Rogol A, et al: Discordant phenotypes and 45,X/46,X,idic(Y). J Med Genet 35:862-864, 1998
5. Hsu L YF: Phenotype/karyotype correlations of Y chromosome aneuploidy with emphasis on structural aberrations in postnatally diagnosed cases. Am J Med Genet 53:108-140, 1994
6. Telvi L, Lebbar A, Del Pino O, et al: 45,X/46,XY mosaicism: Report of 27 cases. Pediatrics 104:304-308, 1999
7. Tuck-Muller CM, Chen H, Martinez C-C S, et al: Isodicentric Y chromosome: Cytogenetic, molecular and clinical studies and review of the literature. Hum Genet 96:119-129, 1995
8. Gourlay WA, Johnson HW, Pantzar JT, et al: Gonadal tumors in disorders of sexual differentiation. Urology 43:537-540, 1994
9. Verp M, Simpson JL: Abnormal sexual differentiation and neoplasia. Cancer Genet Cytogenet 25:191-218, 1987
10. Jendemy J, Schmidt W, Held KR: Presence of the AZF region in a female with an idic(Y)(q11). Clin Genet 54:341-344, 1998
11. Speleman F, Van der Auwera B, Mangelshochots K, et al: Identification and characterization of normal length nonfluorescent Y chromosomes: Cytogenetic analysis, Southern hybridization and nonisotopic in situ hybridization. Hum Genet 85:569-575, 1990
12. Iezzoni JC, Von Kap-Herr C, Golden WL, et al: Gonadoblastomas in 45,X/46,XY mosaicism: Analysis of Y chromosome distribution by fluorescence in situ hybridization. Am J Clin Pathol 108:197-201, 1997
13. Salo P, Kääriäinen H, Petrovic V, et al: Molecular mapping of the putative gonadoblastoma locus on the Y chromosome. Genes Chromosomes Cancer 14:210-214, 1995
14. Tsuchiya K, Reijo R, Page DC, et al: Gonadoblastoma: Molecular definition of the susceptibility region on the Y chromosome. Am J Hum Genet 57:1400-1407, 1995
15. Rossi F, De Castro R, Ceccarelli PL, et al: Anterior sagittal transanorectal approach to the posterior urethra in the pediatric age group. J Urol 160:1173-1177, 1998
16. Rey R: The prepubertal testis: A quiescent or a silently active organ? Histol Histopathol 14:991-1000, 1999
17. Gigilio S, Broman KW, Matsumoto N, et al: Olfactory receptor-gene clusters, genomic-inversion polymorphisms, and common chromosome rearrangements. Am J Hum Genet 68:874-883, 2001
18. Cul K-N, Warnes GM, Jeffrey R, et al: Sex determination of preimplantation embryos by human testis-determining-gene amplification. Lancet 343:79-82, 1994
19. Pinsky L, Erickson RP, Schimke RN: Genetic Disorders of Human Sexual Development. Oxford, England, University Press, 1999
20. Muller J, Ritzen EM, Ivarson SA, et al: Management of males with 45,X/46,XY gonadal dysgenesis. Horm Res 52:11-14, 1999
21. Stuppia L, Gatta V, Calabrese G, et al: A quarter of men with idiopathic oligo-azoospermia display chromosomal abnormalities and microdeletions of different types in interval 6 of Yq11. Hum Genet 102:566-570, 1998
22. De Rosa M, De Brasi D, Zarrilli S, et al: Short stature and azoospermia in a patient with Y chromosome long arm deletion. J Endocrinol Invest 20:623-628, 1997
23. Lahn BT, Page DC: Functional coherence of the human Y chromosome. Science 278:675-680, 1997