XX male with sex reversal and a de novo 11;22 translocation [3]

American Journal of Medical Genetics, Part A

Volumn 140, Issue 18, 2006, Pages 1973-1977

  Macville, Merryn V E ^a   Loneus, Wim H ^a   Marcus Soekarman, Dominique ^a   Huys, Erik H L P G ^b   Schoenmakers, Eric F P M ^b   Schrank Hacker, April ^c   Emanuel, Beverly S ^c   Engelen, John J M ^a  

^a MAASTRICHT UNIVERSITY MEDICAL CENTER   (Netherlands)

^b RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^c CHILDREN S HOSPITAL OF PHILADELPHIA   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CASE REPORT; CHROMOSOME 11; CHROMOSOME 22; CHROMOSOME TRANSLOCATION; FLUORESCENCE IN SITU HYBRIDIZATION; HUMAN; KARYOTYPE 46,XX; LETTER; MALE; PRESCHOOL CHILD; PRIORITY JOURNAL; SEX DETERMINATION; SEX DIFFERENTIATION; SEX TRANSFORMATION; XX MALE;

CHILD, PRESCHOOL; CHROMOSOME ABERRATIONS; CHROMOSOMES, HUMAN, PAIR 11; CHROMOSOMES, HUMAN, PAIR 22; CHROMOSOMES, HUMAN, X; CHROMOSOMES, HUMAN, Y; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; KARYOTYPING; MALE; SEX DETERMINATION (ANALYSIS); SEX DETERMINATION (GENETICS); SEX REVERSAL, GONADAL; TRANSLOCATION, GENETIC;

EID: 33748633528     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.31397     Document Type: Letter

References (17)

1. Aleck KA, Argueso L, Stone J, Hackel JG, Erickson RP. 1999. True hermaphroditism with partial duplication of chromosome 22 and without SRY. Am J Med Genet 85:2-4.
2. Berend SA, Spikes AS, Kashork CD, Wu JM, Daw SC, Scambler PJ, Shaffer LG. 2000. Dual-probe fluorescence in situ hybridization assay for detecting deletions associated with VCFS/DiGeorge syndrome I and DiGeorge syndrome II loci. Am J Med Genet 91:313-317.
3. Chieffo C, Garvey N, Gong W, Roe B, Zhang G, Silver L, Emanuel BS, Budarf ML. 1997. Isolation and characterization of a gene from the DiGeorge chromosomal region homologous to the mouse Tbx1 gene. Genomics 43:267-277.
4. De Vries BB, Pfundt R, Leisink M, Koolen DA, Vissers LE, Janssen IM, van Reijmersdal S, Nillesen WM, Huys EH, de Leeuw N, Smeets D, Sistermans EA, Feuth T, van Ravenswaaij-Arts CM, Geurts van Kessel A, Schoenmakers EF, Brunner HG, Veltman JA. 2005. Diagnostic genome profiling in mental retardation. Am J Hum Genet 77:606-616.
5. Emanuel Syndrome. On-line Mendelian Inheritance in Man #609029. http://www.ncbi.nlm.nih.gov/entrez/dispomim. cgi?id=609029.
6. Erickson RP, Skinner S, Jacquet H, Campion D, Buckley PG, Mantripragada KK, Dumanski JP. 2003. Does chromosome 22 have anything to do with sex determination: Further studies on a 46,XX,22q11.2 del male. Am J Med Genet Part A 123A:64-67.
7. Fraccaro M, Lindsten J, Ford CE, Iselius L. 1980. The 11q;22q translocation: A European collaborative analysis of 43 cases. Hum Genet 56:21-51.
8. Krzywinski M, Bosdet I, Smailus D, Chiu R, Mathewson C, Wye N, Barber S, Brown-John M, Chan S, Chand S, Cloutier A, Girn N, Lee D, Masson A, Mayo M, Olson T, Pandoh P, Prabhu AL, Schoenmakers E, Tsai M, Albertson D, Lam W, Choy CO, Osoegawa K, Zhao S, de Jong PJ, Schein J, Jones S, Marra MA. 2004. A set of BAC clones spanning the human genome. Nucleic Acids Res 32:3651-3660.
9. Kurahashi H, Emanuel BS. 2001. Long AT-rich palindromes and the constitudonal t(11;22) breakpoint. Hum Mol Genet 10:2605-2617.
10. Phelan MC, Rogers RC, Crawford EC, Brown LG, Page DC. 2003. Velocardiofacial syndrome in an unexplained XX male. Am J Med Genet Part A 116A:77-79.
11. Schinzel A, Schmid W, Auf der Maur P, Moser H, Degenhardt KH, Geisler M, Grubisic A. 1981. Incomplete trisomy 22.1. Familial 11/22 translocation with 3: 1 meiotic disjunction. Delineation of a common clinical picture and report of nine new cases from six families. Hum Genet 56:249-262.
12. Seeherunvong T, Perera EM, Bao Y, Benke PJ, Benigno A, Donahue RP, Berkovitz GD. 2004. 46,XX sex reversal with partial duplication of chromosome arm 22q. Am J Med Genet Part A 127A:149-151.
13. Shaikh TH, Budarf ML, Celle L, Zackai EH, Emanuel BS. 1999. Clustered 11q23 and 22q11 breakpoints and 3:1 meiotic malsegregation in multiple unrelated t(11;22) families. Am J Hum Genet 65:1595-1607.
14. Spiteri E, Babcock M, Kashork CD, Wakui K, Gogineni S, Lewis DA, Williams KM, Minoshima S, Sasaki T, Shimizu N, Potocki L, Pulijaal V, Shanske A, Shaffer LG, Morrow BE. 2003. Frequent translocations occur between low copy repeats on chromosome 22q11.2 (LCR22s) and telomeric bands of partner chromosomes. Hum Mol Genet 12:1823-1837.
15. Tapia-Páez I, O'Brien KP, Kost-Alimova M, Sahlen S, Kedra D, Bruder CE, Andersson B, Roe BA, Hu P, Imreh S, Blennow E, Dumanski JP. 2000. Fine mapping of the constitutional translocation t(11;22)(q23;q11). Hum Genet 106:506-516.
16. Wiegant J, Dauwerse JG. 1995. Multi-colored chromosomes by fluorescence in situ hybridization. In: Verma RS, Babu A, editors. Human chromosomes principles and techniques. New York: McGraw-Hill. p 210-218.
17. Zackai EH, Emanuel BS. 1980. Site-specific reciprocal translocation, t(11;22) (q23;q11), in several unrelated families with 3:1 meiotic disjunction. Am J Med Genet 7:507-521.