Familial (9;11)(p22;p15.5)pat translocation and XX sex reversal in a phenotypic boy with cryptorchidism and delayed development

Genetic Counseling

Volumn 15, Issue 1, 2004, Pages 37-41

  Prabhakara, K ^a   Angalena, R ^a   Ramadevi, A Radha ^a  

^a CENTRE FOR DNA FINGERPRINTING AND DIAGNOSTICS   (India)

Author keywords

Chromosome 9 and 11; Cryptorchidism; Delayed development; Reciprocal translocation; XX sex reversal

Indexed keywords

ARTICLE; ATTENTION DEFICIT DISORDER; CASE REPORT; CHILD; CHROMOSOME 22P; CHROMOSOME 9; CHROMOSOME TRANSLOCATION; CRYPTORCHISM; CYTOGENETICS; DEVELOPMENTAL DISORDER; FACE DYSMORPHIA; FAMILIAL DISEASE; GENE; GENE INACTIVATION; HUMAN; KARYOTYPE; KARYOTYPE 46,XX; MALE; PHENOTYPE; POLYMERASE CHAIN REACTION; RECIPROCAL CHROMOSOME TRANSLOCATION; SEMINIFEROUS TUBULE; SEX DETERMINATION; SEX TRANSFORMATION; SRY GENE;

ATTENTION DEFICIT DISORDER WITH HYPERACTIVITY; CHILD; CHROMOSOMES, HUMAN, PAIR 12; CHROMOSOMES, HUMAN, PAIR 15; CHROMOSOMES, HUMAN, PAIR 9; CHROMOSOMES, HUMAN, X; CRYPTORCHIDISM; GENES, SRY; HUMANS; MALE; MENTAL RETARDATION; PHENOTYPE; SEX REVERSAL, GONADAL; TRANSLOCATION, GENETIC;

EID: 1642464651     PISSN: 10158146     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (15)

1. BERTA P., HAWKINS J.R., SINCLAIR A.H., TAYLOR A., GRIFFITHS B.L., GOODFELLOW P.N., FELLOUS M.: Genetic evidence equating SRY and the testis-determining factor. Nature, 1990, 348, 448-450.
2. BUGGE M., BRUUN-PETERSEN G., BRONDUMNIELSEN K., FRIEDRICH U., HANSEN J., JENSEN G., JENSEN P.K., KRISTOFFERSSON U., LUNDSTEEN C., NIEBUHR E., RASMUSSEN K.R., RASMUSSEN K., TOMAIERUP N.: Disease associated balanced chromosome rearrangements: a resource for large-scale genotype-phenotype delineation in man. J. Med. Genet., 2000, 37, 858-865.
3. BUHLER E.M.: Unmasking of heterozygosity by inherited balanced translocation. Implications for prenatal diagnosis and gene mapping. Ann. Genet., 1983, 26, 133-137.
4. COLES K., MACKENZIE M., CROLLA J., HARVEY J., STARR J., HOWARD F., JACOBS P.: A Complex rearrangement associated with sex reversal and Wolf-Hirschhorn Syndrome: a cytogenetic and molecular study. J. Med Genet., 1992, 29, 400-406.
5. CONTE R.A., SAYEGH S.E., VERMA R.S.: An apparent balanced translocation t(9;11)(p21.2;p14.2) in a neonate with dysmorphic features. Ann. Genet., 1992, 35, 164-165.
6. DE LA CHAPELLE A.: The etiology of maleness in XX men. Hum. Genet., 1981, 58, 105-116.
7. FERGUSON-SMITH M.A.: X-Y chromosomal interchanges in the etiology of true hermaphroditism and of XX Klinefelter's syndrome. Lancet, 1966, ii, 475-476.
8. FRYNS J.P., KLECZKOWSKA A., KUBIEN E., VAN DEN BERGHE H.: Excess of mental retardation and/or congenital malformations in reciprocal translocation in man. Hum. Genet., 1986, 72, 1-8.
9. GARDNER R.J.M., SUTHERLAND G.R.: Chromosomal Abnormalities and Genetic Counseling. Oxford, Oxford University Press, 1989.
10. HOOK E.B., HAMERTON J.L.: The frequency of chromosome abnormalities detected in Consecutive newborn studies - differences between studies - results by sex and by severity of phenotypic involvement. In: Population Cytogenetics. Hook E.B. and Porter I.H. (eds). New York. Academic Press, 1977, 63-79.
11. JACOBS P.A.: Correlation between euploid structural rearrangements and mental subnormality in humans. Nature, 1974, 249, 164-165.
12. KOOPMAN P., GUBBAY J., VIVIAN N., GOODFELLOW P.N., LOVEL-BADGE R.: Male development of chromosomally female mice transgenic for SRY. Nature, 1990, 351, 117-121.
13. KUSZ K., KOTECKI M., WOJDA A., SZARRAS-CZAPNIK M., LATOS-BIELENSKA A., WARENIK-SZYMANKIEWICZ A., RUSZCZYNSKA-WOLSKA A., JARUZELSKA J.: Incomplete masculization of XX subjects Carrying the SRY gene on an inactive X chromosome. J. Med. Genet., 1999, 36, 452-456.
14. TOMMERUP N., BRANDT C.A., PEDERSEN S., BOLUND L., KAMPER J.: Sex dependent transmission of Beckwith-Weidmann syndrome associated with a reciprocal translocation t(9;11)(p11.2;p11.5). J. Med. Genet., 1993, 30, 958-961.
15. WARBURTON D.: De novo balanced chromosomal rearrangements and extra marker chromosomes identified at prenatal diagnosis: clinical significance and distribution of breakpoints. Am., J. Hum. Genet., 1991, 49, 995-1013.