Abstract
An 11-year-old girl with short stature, mental retardation, and mild dysmorphic features was found to have an inverted duplication of most of the short arm of the X chromosome [dic inv dup(X)(qter→p22.3: :p22.3→ cen:)]. Her mother, who is also short and retarded, carries the same duplication. Fluorescence in situ hybridization with an X chromosome library, and with X centromerespecific alpha satellite and telomere probes, was useful in characterizing the duplication. In most females with structurally abnormal X chromosomes, the abnormal chromosome is inactivated. Although the duplicated X was consistently late replicating in the mother, X chromosome inactivation studies in the proband indicated that in 11% of her lymphocytes the duplicated X was active.
This is a preview of subscription content, log in via an institution to check access.
Similar content being viewed by others
References
Bernstein R, Jenkins T, Dawson B, Wagner J, Dewald G, Koo GC, Wachtel SS (1980a) Female phenotype and multiple abnormalities in sibs with a Y chromosome and partial X chromosome duplication: Y antigen and Xg blood group findings. J Med Genet 17: 291–300
Bernstein R, Koo GC, Wachtel SS (1980b) Abnormality of the X chromosome in human 46,XY female siblings with dysgenetic ovaries. Science 207: 768–769
Caspersson T, Lomakka G, Zech L (1971) The 24 fluorescence patterns of the human metaphase chromosomes: distinguishing characters and variability. Hereditas 67: 89–102
Cremers FPM, Pfeiffer RA, Pol TJR van de, Hofker MH, Kruse TA, Wieringa B, 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
Crisalli M, Cuoco C, Gimelli G, Monteverde R (1981) 46,X,del (X)(p21) in a 14-year-old female with Turner signs, one streak and one normal ovary. Ann Genet 24: 114–116
Deng H-X, Xia J-H, Ishikawa M, Niikawa N (1990) Parental origin and mechanism of formation of X chromosome structural abnormalities: four cases determined with RFLPs. Jpn J Hum Genet 35: 245–251
Fryns JP, Petit P, Berghe H van den (1981) The various phenotypes in Xp deletion: observations in eleven patients. Hum Genet 57: 385–387
German JL III (1962) DNA synthesis in human chromosomes. Trans NY Acad Sci 24: 395–407
Goldman B, Polani PE, Daker MG, Angell RR (1982) Clinical and cytogenetic aspects of X-chromosome deletions. Clin Genet 21: 36–52
Herva R, Kaluzewski B, Chapelle A de la (1979) Inherited interstitial del(Xp) with minimal clinical consequences: with a note on the location of genes controlling phenotypic features. Am J Med Genet 3: 43–58
Kalousek D, Schriffrin A, Burguer A-M, Spier P, Guyda H, Colle E (1979) Partial short arm deletions of the X chromosome and spontaneous pubertal development in girls with short stature. J Pediatr 94: 891–894
Kaosaar M, Mikelsaar A-V (1980) Partial short arm deletion of the X chromosome 46,X,del(X)(qter→p 21:). Hum Genet 53: 275–277
Lyon MF (1972) X chromosome inactivation and developmental patterns in mammals. Biol Rev 47: 1–35
Magenis RE, Donlon TA, Canfield WM, Koler R, Bigley R (1984) Partial duplication of X long arm, q26.3→qter: gene dose effects of G6PD, HPRT, factor VIII:C, and factor IX. Cytogenet Cell Genet 37: 528
Morichon-Delvallez N, Couturier J, Bourdrel V (1988) Inherited Xq duplication due to a zygotic translocation t(X;X)(q23;q27). Ann Genet 31: 117–119
Narahara K, Kodama Y, Kimura S, Kimoto H (1979) Probable inverted tandem duplication of Xp in a 46,Xp+Y boy. Jpn J Hum Genet 24: 105–110
Nielsen KB, Langkjær F (1982) Inherited partial X chromosome duplication in a mentally retarded male. J Med Genet 19: 222–236
Nielsen KB, Dyggve HV, Knudsen H, Olsen J (1983) A chromosomal survey of an institution for the mentally retarded. Dan Med Bull 30: 5–13
Ogata T, Hawkins JR, Taylor A, Matsuo N, Hata J, Goodfellow PN (1992) Sex reversal in a child with a 46,X,Yp+ karyotype; support for the existence of a gene(s), located in distal Xp, involved in testis formation. J Med Genet 29: 226–230
Pai GS, Thomas GH (1980) A new R-banding technique in clinical cytogenetics. Hum Genet 54: 41–45
Petrinelli P, Antonelli A, Gabellini P, Gigliani F, Marcucci L, Nicoletti B (1978) Partial deletion of the X chromosome in gonadal dysgenesis 46,X,del(X)(p22) identified by BUdR treatment. Hum Genet 45: 351–354
Pinkel D, Straume T, Gray L (1986) Cytogenetic analysis using quantitative, high sensitive, fluorescence in situ hybridization. Proc Natl Acad Sci USA 83: 2934–2938
Pinkel D, Landegent L, Collins C, Fuscoe L, Segraves R, Lucas L, Gray L (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
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
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 grandparent mitotic error. Am J Hum Genet 38: 741–750
Seabright M (1971) A rapid banding technique for human chromosomes. Lancet II: 971–972
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
Sumner AT (1972) A simple technique for demonstrating centromeric heterochromatin. Exp Cell Res 75: 304–306
Therman E, Pätau K (1974) Abnormal X chromosomes in man: origin, behavior and effects. Humangenetik 25: 1–16
Vejerslev LO, Rix M, Jespersen B (1985) Inherited tandem duplication dup(X)(q131q212) in a male proband. Clin Genet 27: 276–281
Willard HF, Smith KD, Sutherland J (1983) Isolation and characterization of a major tandem repeat family from the human X chromosome. Nucleic Acids Res 11: 2017–2033
Wilson MG, Modebe O, Towner JW, Frasier SD, Lin MS (1983) Ullrich-Turner syndrome associated with interstitial deletion of Xp11.4→p22.31. Am J Med Genet 14: 567–576
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
Author information
Authors and Affiliations
Rights and permissions
About this article
Cite this article
Tuck-Muller, C.M., Martinez, J.E., Batista, D.A.S. et al. Duplication of the short arm of the X chromosome in mother and daugther. Hum Genet 91, 395–400 (1993). https://doi.org/10.1007/BF00217366
Received:
Revised:
Issue Date:
DOI: https://doi.org/10.1007/BF00217366