Molecular cytogenetic identification of four X chromosome duplications

American Journal of Medical Genetics

Volumn 68, Issue 1, 1997, Pages 29-38

  Zhang, Aiwu ^a   Weaver, David D ^a   Palmer, Catherine G ^a  

^a INDIANA UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

duplications; X chromosome; X FISH

Indexed keywords

ADULT; ARTICLE; CASE REPORT; CHROMOSOME DUPLICATION; CHROMOSOME G BAND; CLINICAL FEATURE; CRYPTORCHISM; DNA PROBE; FACE MALFORMATION; FAILURE TO THRIVE; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; HUMAN; HUMAN CELL; INFANT; MALE; MENTAL DEFICIENCY; POTTER SYNDROME; PRESCHOOL CHILD; PRIORITY JOURNAL; SHORT STATURE; X CHROMOSOME;

ADULT; CHILD, PRESCHOOL; CHROMOSOME BANDING; CHROMOSOME MAPPING; DNA MUTATIONAL ANALYSIS; FEMALE; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; KARYOTYPING; MALE; PEDIGREE; SEQUENCE ANALYSIS, DNA; SEX CHROMOSOME ABERRATIONS; X CHROMOSOME;

EID: 0031012016     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1096-8628(19970110)68:1<29::AID-AJMG6>3.0.CO;2-T     Document Type: Article

References (38)

1. Arn P, Chen H, Tuck-Muller C, Mankinen C, Wachtel G, Li S, Shen C, Wachtel S (1994): SRVX, a sex reversing locus in Xp21.2→p22.11. Hum Genet 93:389-393.
2. Aughton DJ, Al Saadi AA, Johnson JA, Transue DJ, Trock GL (1993): Dir dup(X) (q13-qter) in a girl with growth retardation, microcephaly, developmental delay, seizures, and minor anomalies. Am J Med Genet 46:159-164.
3. Bardoni B, Zanaria E, Guioli S, Floridia G, Worley KC, Tonini G, Ferrrante E, Chiumello G, McCabe ERB, Fraccaro M, Zuffardi O, Camerino G (1994): A dosage sensitive locus at chromosome Xp21 is involved in male to female sex reversal. Nat Genet 7:497-501.
4. Bernstein R, Jenkins T, Dawson B, Wagner J, Dewald G, Koo GC, Wachtel SS (1980): Female phenotype and multiple abnormalities in sibs with a Y chromosome and partial X chromosome duplication: H-Y antigen and Xg blood group findings. J Med Genet 17: 291-300.
5. Carrio A, Soler A, Perez MT, Margarit E, Salami C, Fuster J, Cararach J, Farguell T, Fortuny A (1991): Prenatal diagnosis of dup (X)(q13q22) in CVS. Clin Genet 40:128.
6. Cianchetti C, Muntoni F, Falchi A, Nucaro A, Sannio-Fancello G, Cao A, Marrosu M (1992): X-linked mental retardation and characteristic physical features in two brothers with duplication Xp22-Xpter. Am J Med Genet 43:475-478.
7. Crandall BF, Lamb AN, Estabrooks LL (1993): A girl with an inverted duplicated Xq and an abnormal phenotype. Am J Hum Genet 53:540.
8. Cremers FPM, Pfeiffer RA, van de Pol TJR, Hofker MH, Krise TA, Ropers HH (1987): An interstitial duplication of the X chromosome in a male allows physical fine mapping of probes from the Xq13-q22 region. Hum Genet 77:23-27.
9. Deng H, Xia J, Ishikawa M, Nikawa N (1990): Parental origin and mechanism of formation of X chromosome structural abnormalities: Four cases determined with RFLPs. Jinrui Idengaku Zasshi 35:245-251.
10. Disteche C (1995): Escape from X inactivation in human and mouse. Trends Genet 11:17-22.
11. Freije D, Helms C, Watson MS, Donis-Keller H (1992): Identification of a second pseudoautosomal region near Xq and Yq telomeres. Science 258:1784-1787.
12. Gordon AJ, Halliday JA (1995): Inversions with deletions and duplications. Genetics 140:411-414.
13. Grubs R, Klinepeter K, Stewart W, Hayworth R, Jewett T, Thomas IT, Rao PN, Pettenati MJ (1993): Duplication Xp in a male as confirmed by molecular-cytogenetics: Case report and review. Am J Hum Genet 53:554.
14. Hall JG (1991): X inactivation of the X chromosome is not complete. Growth 7:9.
15. Just W, Vogel W, Llerena JR, Vargas FR, Martins RR, de Almeida JCC (1993): Xp duplication (p21-pter) in a patient with Y chromosome, micropenis, congenital anomalies but an unambiguous male external genitalia. Am J Hum Genet 53:1583.
16. Knuutila S, Heinonen K, Hongell K, Varonen S, Simell O (1984): A duplication within the critical fertility region of X chromosome in a mentally retarded woman with normal menarche. Hereditas 101: 253-255.
17. Latt SA, Willard HF, Gerald PS (1976): BrdU-33258 Hoechst analysis of DNA replication in human lymphocytes with supernumerary or structurally abnormal X chromosomes. Chromosoma 57:135-153.
18. Magenis RE, Donlon TA, Canfield WM, Koler R, Bigley R (1984): Partial duplication of X long arm, q26.3-qter: Gene dose effect of G6PD, HPRT, factor VIII:c, and factor IX. Cytogenet Cell Genet 37:528.
19. Mohandas T, Geller RL, Yen PH, Rosendorff J, Bernstein R, Yoshida A, Shapiro LJ (1987): Cytogenetic and molecular studies on a recombinant human X chromosome: Implication for the spreading of X chromosome inactivation. Proc Natl Acad Sci USA 84:4954-4958.
20. Muscatelli F, Verna JM, Philip N, Moncla A, Mattei MG, Fontes M (1992): Physical mapping of an Xq-proximal interstitial duplication in a male. Hum Genet 88:691-694.
21. Narahara K, Kodama Y, Kimura S, Kimoto H (1979): Probable inverted tandem duplication of XP in a 46,Y,Xp+ boy. Jinrui Idengaku Zasshi 24:105-110.
22. Nielsen KB, Langkjaer F (1982): Inherited partial X chromosome duplication in a mentally retarded male. J Med Genet 19:222-224.
23. Pinkel D, Landegent J, Collins C, Fuscoe J, Segraves R, Lucas J, Gray J (1988): Fluorescence in situ hybridization with human chromosome-specific libraries: Detection of trisomy 21 and translocations of chromosome 4. Proc Natl Acad Sci USA 85:9138-9142.
24. Rao PN, Klinepeter K, Stewart W, Hayworth R, Grubs R, Pettenati MJ (1994): Molecular cytogenetic analysis of a duplication Xp in a male: Further delineation of a possible sex influencing region on the X chromosome. Hum Genet 94:149-153.
25. Scherer G, Schempp W, Baccichetti C, Lenzini E, Bricarelli FD, Carbone LDL, Wolf U (1989): Duplication of an Xp segment that includes the ZFX locus causes sex inversion in man. Hum Genet 81:291-294.
26. Schmidt M, Sart DD, Kalitsis P, Leversha M, Dale S, Sheffield J, Toniolo D (1991): Duplications of the X chromosome in males: Evidence that most parts of the X chromosome can be active in two copies. Hum Genet 86:519-521.
27. Schmucker B, Cohen M, Schuffenhauer S, Genzel O, Bach I, Stengel-Rutkowski S, Meindl A (1993): Breakpoint analysis, XIST expression and X-inactivation study in an Xq proximal interstitial duplication involving the X inactivation center of a female carrier and her two sons with malformation syndrome. Am J Hum Genet 53:600.
28. Schwartz S, Schwartz MF, Panny SR, Peterson CJ, Waters E, Cohen MM (1986): Inherited X-chromosome inverted tandem duplication in a male traced to a grandparental mitotic error. Am J Hum Genet 38:741-750.
29. Steinbach P, Horstmann W, Scholz W (1980): Tandem duplication dup(X)(q13q22) in a male proband inherited from the mother showing mosaicism of X-inactivation. Hum Genet 54:309-313.
30. Thode A, Partington MW, Yip MY, Chapman C, Richardson VF, Turner G (1988): A new syndrome with mental retardation, short stature, and an Xq duplication. Am J Med Genet 30:239-250.
31. Tuck-Muller CM, Martinez JE, Batista DAS, Kearns WG, Wertelecki W (1993): Duplication of the short arm of the X chromosome in mother and daughter. Hum Genet 91:395-400.
32. Van Dyke D, Miller MJ, Weiss L (1983): The origin of inverted tandem duplications, and phenotypic effects of tandem duplication of the X chromosome long arm. Am J Med Genet 15:441-450.
33. Varella-Garcia M (1981): Structural aberration of the X chromosome in a patient with gonadal dysgenesis: An approach to karyotypephenotype correlation. J Med Genet 18:228-231.
34. Vasquez AI, Rivera H, Bobadilla L, Crolla JA (1995): A familia Xp+ chromosome, dup(Xq26.3→qter). J Med Genet 32:891-893.
35. Vejerslev LO, Rix M, Jespersen B (1985): Inherited tandem duplication dup(X)(q13.1-q21.2) in a male proband. Clin Genet 27:276-281.
36. Wyandt HE, Bugeau-Michaud L, Skare JC, Milunsky A (1991): Partial duplication of Xp: A case report and review of previously reported cases. Am J Med Genet 40:280-283.
37. Yokoyama Y, Narahara K, Tsuji K, Moriwake T, Kanzaki S, Murakami M, Namba H, Ninomiya S, Higuchi J, Seino Y (1992): Growth hormone deficiency and empty sella syndrome in a boy with dup(X)(q13.3-q21.2). Am J Med Genet 42:660-664.
38. Yu CW, Curry CJR, Favour A, Immken L, Yu LC (1993): Replication study of an abnormal X chromosome by chromosome painting and BrdU/thymidine incorporation. Am J Hum Genet 53:630.