Complete androgen insensitivity in a 47,XXY patient with uniparental disomy for the X chromosome

American Journal of Medical Genetics

Volumn 86, Issue 2, 1999, Pages 107-111

  Uehara, Shigeki ^a   Tamura, Mitsutoshi ^a   Nata, Masayuki ^a   Kanetake, Jun ^a   Hashiyada, Masaki ^a   Terada, Yukihiro ^a   Yaegashi, Nobuo ^a   Funato, Tadao ^a   Yajima, Akira ^a  

^a TOHOKU UNIVERSITY SCHOOL OF MEDICINE   (Japan)

Author keywords

Androgen insensitivity syndrome; Double mutation; Klinefelter syndrome; Meiosis II nondisjunction; Microsatellite markers; Uniparental disomy

Indexed keywords

ANDROGEN; MICROSATELLITE DNA;

ADULT; ANDROGEN INSENSITIVITY SYNDROME; ARTICLE; CASE REPORT; CHROMOSOME XQ; FEMALE; GENE MUTATION; HUMAN; HUMAN CELL; KARYOTYPE; KLINEFELTER SYNDROME; NONDISJUNCTION; NONSENSE MUTATION; PRIORITY JOURNAL; SEQUENCE ANALYSIS; SKIN FIBROBLAST; UNIPARENTAL DISOMY;

ADULT; ANDROGEN-INSENSITIVITY SYNDROME; ANEUPLOIDY; BASE SEQUENCE; BINDING, COMPETITIVE; FEMALE; HUMANS; KARYOTYPING; MALE; MUTATION; RADIOLIGAND ASSAY; RECEPTORS, ANDROGEN; SEX CHROMOSOME ABERRATIONS; X CHROMOSOME;

EID: 0033543479     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1096-8628(19990910)86:2<107::AID-AJMG3>3.0.CO;2-4     Document Type: Article

References (23)

1. Bartsch-Sandhoff M, Stephan L, Röhrborn G, Pawlowitzki IH, Scholz W. 1976. Ein Fall von testiculärer Feminisierung mit dem Karyotype 47,XXY. Hum Genet 31:59-65.
2. Benlian P, Foubert L, Gagn E, Bernard GL, De Genned JL, Langlois S, Robinson W, Hayden M. 1996. Complete paternal isodisomy for chromosome 8 unmasked by lipoprotein lipase deficiency. Am J Hum Genet 59:431-436.
3. Chen H, Lowther W, Avramopoulos D, Antonarakis SE. 1994. Homologous loci DXYS156X and DXYS156Y contain a polymorphic pentanucleotide repeat (TAAAA)n and map to human X and Y chromosomes. Hum Mutation 4:208-211.
4. Disteche CM. 1995. Escape from X inactivation in human and mouse. Trends in Genet 11:17-22.
5. Edwards A, Hammond HA, Jin C, Thomas Caskey C, Chakraborty R. 1992. Genetic variation at five trimeric and tetrameric tandem repeat loci in four human population groups. Genomics 12:241-253.
6. Engel E. 1980. A new genetic concept: uniparental disomy and its potential effect, isodisomy. Am J Med Genet 6:137-143.
7. Gelb BD, Willner JP, Dunn TM, Kardon NB, Verloes A, Poncin J, Desnick RJ. 1998. Paternal uniparental disomy for chromosome 1 revealed by molecular analysis of a patient with pycnodysostosis. Am J Hum Genet 62:848-854.
8. Gerli M, Migliorini G, Bocchini V, Venti G, Ferrarese R, Donti E, Rosi G. 1979. A case of complete testicular feminization and 47,XXY karyotype. J Med Genet 16:480-483.
9. German J, Vessel M. 1966. Testicular feminization in monozygotic twins with 47 chromosomes (XXY). Ann Génét (Paris) 9:5-8.
10. Graffin JE, Wilson JD. 1989. The androgen resistance syndromes. In: Scriver CR, Beaudet AL, Sly WS, Valle D, editors. The metabolic basis of inherited disease, 6th ed. New York: McGraw-Hill. p 1919-1944.
11. Huang TH, Fielding Hejtmancik J, Edwards A, Pettigrew AL, Herrera CA, Hammond HA, Thomas Caskey C, Zoghbi HY, Ledbetter DH. 1991. Linkage of the gene for an X-linked mental retardation disorder to a hypervariable (AGAT)n repeat motif within the human hypoxanthine phosphoribosyltransferase (HPRT) locis (Xq26). Am J Hum Genet 49: 1312-1319.
12. Hudson TJ, Engelstein M, Lee MK, Ho EC, Rubenfield MJ, Adams CP, Housman DE, Dracopoli NC. 1992. Isolation and chromosomal assignment of 100 highly informative human simple sequence repeat polymorphisms. Genomics 13:622-629.
13. Jacobs PA, Hassold TJ, Whittington E, Butler G, Collyer S, Keston M, Lee M. 1988. Klinefelter syndrome: an analysis of the origin of the additional sex chromosome using molecular probes. Ann Hum Genet 52: 93-109.
14. Jagiello G, Atwell JD. 1962. Prevalence of testicular feminization. Lancet i:329.
15. Komori S, Sakata K, Tanaka H, Shima H, Koyama K. 1997. DNA analysis of the androgen receptor gene in two cases with complete androgen insensitivity syndrome. J Obstet Gynaecol Res 23:277-281.
16. Ledbetter DH, Engel E. 1995. Uniparental disomy in humans: development of an imprinting map and its implications for prenatal diagnosis. Hum Mol Genet 4:1757-1764.
17. Levitan M. 1988. Textbook of human genetics. New York, Oxford: Oxford University Press, p 59-63.
18. Lubahn DB, Brown TR, Simental JA, Higgs HN, Migeon CJ, Wilson EM, French FS. 1989. Sequence of the intron/exon junctions of the coding region of the human androgen receptor gene and identification of a point mutation in a family with complete androgen insensitivity. Proc Natl Acad Sci USA 86:9534-9538.
19. Lyon MF. 1961. Gene action in the X chromosome of the mouse (Mus musculus L.) Nature 190:372-373.
20. Müller U, Schneider NR, Marks JF, Kupke KG, Wilson GN. 1990. Maternal meiosis II nondisjunction in a case of 47,XXY testicular feminization. Hum Genet 84:289-292.
21. Nakao R, Haji M, Yanase T, Ogo A, Takayanagi R, Katsube T, Fukumaki Y, Nawata H. 1992. A single amino acid substitution (Met796→Val) in the steroid-binding domain of human androgen receptor leads to complete androgen insensitivity syndrome. J Clin Endocrinol Metab 74: 1152-1157.
22. Scully RE, Mark EJ, McNeely WF, McNeely BU. 1990. Case records of the Massachusetts General Hospital. N Engl J Med 322:917-925.
23. Sinnecker GHG, Hiort O, Nitsche EM, Holterhus PM, Kruse K. 1997. Functional assessment and clinical classification of androgen sensitivity in patients with mutations of the androgen receptor gene. Eur J Pediatr 156:7-14.