Two Patients with X Chromosome Duplication: dupXp and dupXq

Ozer, O; Yilmaz, Z; Simsek, E; Derbent, M; Guner, S; Sahin, F

doi:10.2478/v10034-010-0008-6

Abstract

Structural abnormalities of the X chromosome may lead to different phenotypes, depending on the chromosome region affected. We report phenotypic findings of two patients who had X chromosome duplications. One had a menstrual irregularity, a low hairline, cubitus valgus and suffered from dyslexia. The other had multiple congenital anomalies, severe mental-motor retardation and intractable epilepsy. The karyotypes were 46,X,dup(X) (p11.3p21) and 46,X,dup(X)(q13q25) respectively.

References

Narahara K, Kodama Y, Kimura S, Kimoto H. Probable inverted tandem duplication of XP in a 46,XY,Xp+ boy. Jinrui Idengaku Zasshi 1979; 24(2): 105-110.10.1007/BF01888928
Search in Google Scholar
Gardner RJM, Sutherland GR, Eds. Chromosome Abnormalities and Genetic Counseling, 3rd ed. Oxford: Oxford University Press, 2004.
Search in Google Scholar
Schwartz S, Schwartz MF, Panny SR, Peterson CJ, Waters E, Cohen MM. Inherited X-chromosome inverted tandem duplication in a male traced to a grandparental mitotic error. Am J Hum Genet 1986; 38(5): 741-750.
Search in Google Scholar
Leppig KA, Disteche CM. Ring X and other structural X chromosome abnormalities: X inactivation and phenotype. Semin Reprod Med 2001; 19(2): 147-157.10.1055/s-2001-15395
Search in Google Scholar
Cheng SF, Rauen KA, Pinkel D, Albertson DG, Cotter PD. Xq chromosome duplication in males: clinical, cytogenetic and array CH characterization of new case and review. Am J Med Genet A 2005; 135(3): 308-313.10.1002/ajmg.a.30613
Search in Google Scholar
Zhang A, Weaver DD, Palmer CG. Molecular cytogenetic identification of four X chromosome duplications. Am J Med Genet 1997; 68(1): 29-38.10.1002/(SICI)1096-8628(19970110)68:1<;29::AID-AJMG6>3.0.CO;2-T
Search in Google Scholar
Stankiewicz P, Thiele H, Schlicker M, Cseke-Friedrich A, Bartel-Friedrich S, Yatsenko SA, Lupski JR, Hansmann I. Duplication of Xq26.2-q27.1, including SOX3, in a mother and daughter with short stature and dyslalia. Am J Med Genet A 2005; 138(1): 11-17.10.1002/ajmg.a.30910
Search in Google Scholar
Portnoï MF, Bouayed-Abdelmoula N, Mirc M, Zemni R, Castaing H, Stephann J, Ardalan A, Vialard F, Nouchy M, Daoud P, Chelly J, Taillemite JL. Molecular cytogenetic analysis of duplication Xp in a female with an abnormal phenotype and random X inactivation. Clin Genet 2000; 58(2): 116-122.10.1034/j.1399-0004.2000.580205.x
Search in Google Scholar
Tihy F, Lemyre E, Lemieux N, Dallaire L. De novo dup(X)(q22.1q25) in a girl with an abnormal phenotype. Am J Med Genet 1999; 87(4): 302-305.10.1002/(SICI)1096-8628(19991203)87:4<;302::AID-AJMG4>3.0.CO;2-D
Search in Google Scholar
Tuck-Miller CM, Martinez JE, Batista DAS, Kearns WG, Wertelecki W. Duplication of the short arm of the X chromosome in mother and daughter. Hum Genet 1993; 91(4): 395-400.
Search in Google Scholar
Armstrong L, McGowan-Jordan J, Brierley K, Allanson JE. De novo dup(X)(q22.3q26) in a girl with evidence that functinal disomy of X material is the cause of abnormal phenotype. Am J Med Genet A 2003; 116(1): 71-76.10.1002/ajmg.a.10727
Search in Google Scholar
Van Dyke DL, Miller MJ, Weiss L. The origin of inverted tandem duplications and phenotypic effects of tandem duplication of the X chromosome long arm. Am J Med Genet 1983; 15(3): 441-450.10.1002/ajmg.1320150309
Search in Google Scholar
Apacik C, Cohen M, Jakobeit M, Schmucker B, Schuffenhauer S, Thurn und Taxis E, Genzel-Boroviczeny O, Stengel-Rutkowski S. Two brothers with multiple congenital anomalies and mental retardation due to disomy (X)(q12→q13.3) inherited from the mother. Clin Genet 1996; 50(2): 63-73.10.1111/j.1399-0004.1996.tb02350.x
Search in Google Scholar
Goodman BK, Shaffer LG, Rutberg J, Leppert M, Harum K, Gagos S, Ray JH, Bialer MG, Zhou X, Pletcher BA, Shapira SK, Geraghty MT. Inherited duplication Xq27-qter at Xp22.3 in severely affected males: molecular cytogenetic evaluation and clinical description in three unrelated families. Am J Med Genet 1998; 80(4): 377-384.10.1002/(SICI)1096-8628(19981204)80:4<;377::AID-AJMG14>3.0.CO;2-7
Search in Google Scholar
Lammer EJ, Punglia DR, Fuchs AE, Rowe AG, Cotter PD. Inherited duplication of Xq27.2→qter: phenocopy of infantile Prader-Willi syndrome. Clin Dysmorphol 2001; 10(2): 141-144.10.1097/00019605-200104000-00012
Search in Google Scholar
Thode A, Partington MW, Yip MY, Chapman C, Richardson VF, Turner G. A new syndrome with mental retardation, short stature and an Xq duplication. Am J Med Genet 1988; 30(1-2): 239-250.10.1002/ajmg.1320300125
Search in Google Scholar
Yokoyama Y, Narahara K, Tsuji K, Moriwake T, Kanzaki S, Murakami M, Namba H, Ninomiya S, Highuchi J, Seino Y. Growth hormone deficiency and empty sella syndrome in a boy with dup(X) (q13.3→q21.2). Am J Med Genet 1992; 42(5): 660-664.10.1002/ajmg.1320420506
Search in Google Scholar
Aughton DJ, Al Saadi AA, Jhonson JA, Transue DJ, Trock GL. dup(X)(q13-qter) in a girl with growth retardation, microcephaly, developmental delay, seizures, and minor anomalies. Am J Med Genet 1993; 46(2): 395-400.10.1002/ajmg.1320460212
Search in Google Scholar
Vokac NK, Ciglenecki PS, Erjavec A, Zagradisnik B, Zagorac A. Partial Xp duplication in a girl with dysmorphic features: the change in replication pattern of late- replicating dupX chromosome. Clin Genet 2002; 61(1): 54-61.10.1034/j.1399-0004.2002.610111.x
Search in Google Scholar
Carrel L, Cottle AA, Goglin KC, Willard HF. A first-generation X-inactivation profile of the human X chromosome. Proc Natl Acad Sci USA 1999; 96(25): 14440-14444.10.1073/pnas.96.25.14440
Search in Google Scholar

Two Patients with X Chromosome Duplication: dupXp and dupXq

Abstract

Paradigm

My account