
REPORT OF A NEW CASE WITH PENTASOMY X
AND NOVEL CLINICAL FINDINGS Demirhan O, Tanriverdi N, Yilmaz MB, Kocaturk-Sel S,
Inandiklioglu N, Luleyap U, Akbal E, Comertpay G,Tufan T, Dur O *Corresponding Author: Professor Dr. Osman Demirhan, Department of Medical Biology and Genetics, Faculty
of Medicine, Çukurova University, 01330 Saricam, Adana, Turkey. Tel: +90-322-338-7140. Fax: +90-322-
338-6572. E-mail: osdemir@cu.edu.tr page: 85
|
REFERENCES
1. Kesaree N, Wolley PV. A phenotypic female
with 49 chromosomes, presumably XXXXX. J
Pediatr. 1963; 63(1): 1099-1103.
2. Linden MG, Bender BG: Robinson A sex chromosome
tetrasomy and pentasomy. Pediatrics
1995; 96(4): 672-681.
3. Lamb NE, Freeman SB, Savage-Austin A, Pettay
D, Taft L, Hersey J, et al. Susceptible chiasmate
configurations on chromosome 21 predispose to
non-disjunction in both maternal meiosis I and
meiosis II. Nat Genet. 1996; 14(4): 400-405.
4. Nicolaidis P, Petersen MB. Origin and mechanisms
of nondisjunction in human autosomal
trisomies. Hum Reprod. 1998; 13(2): 313-319.
5. Robinson WP, Bernasconi-Quadroni F, Lau A,
McFadden DE. Origin of trisomy: Effect of ascertainment.
Am J Med Genet. 1999; 84(1): 34-42.
6. Diego-Alvarez D, Ramos-Corrales C, Garcia-
Hoyos M, Bustamante-Aragones A, Cantalapiedre
D, Diaz-Recasens J, et al: Double trisomy in spontaneous
miscarriages: Cytogenetic and molecular
approach. Hum Reprod. 2006; 21(4): 958-966.
7. Moraes LM, Cardoso LC, Moura VL, Moreira
MA, Menezes AN, Llerena JC Jr, et al. Detailed
analysis of X chromosome inactivation in a
49,XXXXX pentasomy. Mol Cytogenet. 2009;
2(1): 20-33.
8. Cho YG, Kim DS, Lee HS, Cho SC, Choi SI. A
case of 49,XXXXX in which the extra X chromosomes
were maternal in origin. J Clin Pathol.
2004; 57(1): 1004-1006.
9. Kassai R, Hamada I, Furuta H, Cho K, Abe K,
Deng H-X, et al. Penta X syndrome: A case report
with review of the literature. Am J Med
Genet. 1991; 40(1): 51-56.
10. Zhang R, Pan N, Li X, Wang XQ, Wu M. A case
of 49,XXXXX syndrome. Chin Med J. 1982;
95(12): 891-894.
11. P eet J, Weaver DD, Vance GH. 49,XXXXY: A
distinct phenotype. Three new cases and review.
Med Genet. 1998; 35(5): 420-424.
12. Monheit A, Francke U, Saunders B, Jones KL.
The penta-X syndrome. J Med Genet. 1980;
17(5): 392-396.
13. Boeck A, Gfatter R, Braun F, Fritz B. Pentasomy
X and hyper IgE syndrome: Coexistence of two
distinct genetic disorders. Eur J Pediatr. 1999;
158(9): 723-726.
14. S ergovich F, Uilenberg C, Pozsonyi J. The
49,XXXXX chromosome constitution:
Similarities to the 49,XXXXY condition. J
Pediatr. 1971; 78(2): 285-290.
15. T oussi T, Halal F, Lesage R, Delorme F. Bergeron
A. Renal hypodysplasia and unilateral ovarian
agenesis in the penta-X syndrome. Am J Med
Genet. 1980; 6(2): 153-162.
16. Farge P, Dallaire L, Albert G, Melanĉon SB,
Potter M, Leboeuf G. Oral and dental development
in X chromosome aneuploidy. Clin Genet.
1985; 27(2): 122-126.
17. S choubben E, Decaestecker K, Quaegebeur K,
Danneels L, Mortier G, Cornette L. Tetrasomy
and pentasomy of the X chromosome. Eur J
Pediatr. 2011; 170(1): 1325-1327.
|
|
|
|



 |
Number 27 VOL. 27 (2), 2024 |
Number 27 VOL. 27 (1), 2024 |
Number 26 Number 26 VOL. 26(2), 2023 All in one |
Number 26 VOL. 26(2), 2023 |
Number 26 VOL. 26, 2023 Supplement |
Number 26 VOL. 26(1), 2023 |
Number 25 VOL. 25(2), 2022 |
Number 25 VOL. 25 (1), 2022 |
Number 24 VOL. 24(2), 2021 |
Number 24 VOL. 24(1), 2021 |
Number 23 VOL. 23(2), 2020 |
Number 22 VOL. 22(2), 2019 |
Number 22 VOL. 22(1), 2019 |
Number 22 VOL. 22, 2019 Supplement |
Number 21 VOL. 21(2), 2018 |
Number 21 VOL. 21 (1), 2018 |
Number 21 VOL. 21, 2018 Supplement |
Number 20 VOL. 20 (2), 2017 |
Number 20 VOL. 20 (1), 2017 |
Number 19 VOL. 19 (2), 2016 |
Number 19 VOL. 19 (1), 2016 |
Number 18 VOL. 18 (2), 2015 |
Number 18 VOL. 18 (1), 2015 |
Number 17 VOL. 17 (2), 2014 |
Number 17 VOL. 17 (1), 2014 |
Number 16 VOL. 16 (2), 2013 |
Number 16 VOL. 16 (1), 2013 |
Number 15 VOL. 15 (2), 2012 |
Number 15 VOL. 15, 2012 Supplement |
Number 15 Vol. 15 (1), 2012 |
Number 14 14 - Vol. 14 (2), 2011 |
Number 14 The 9th Balkan Congress of Medical Genetics |
Number 14 14 - Vol. 14 (1), 2011 |
Number 13 Vol. 13 (2), 2010 |
Number 13 Vol.13 (1), 2010 |
Number 12 Vol.12 (2), 2009 |
Number 12 Vol.12 (1), 2009 |
Number 11 Vol.11 (2),2008 |
Number 11 Vol.11 (1),2008 |
Number 10 Vol.10 (2), 2007 |
Number 10 10 (1),2007 |
Number 9 1&2, 2006 |
Number 9 3&4, 2006 |
Number 8 1&2, 2005 |
Number 8 3&4, 2004 |
Number 7 1&2, 2004 |
Number 6 3&4, 2003 |
Number 6 1&2, 2003 |
Number 5 3&4, 2002 |
Number 5 1&2, 2002 |
Number 4 Vol.3 (4), 2000 |
Number 4 Vol.2 (4), 1999 |
Number 4 Vol.1 (4), 1998 |
Number 4 3&4, 2001 |
Number 4 1&2, 2001 |
Number 3 Vol.3 (3), 2000 |
Number 3 Vol.2 (3), 1999 |
Number 3 Vol.1 (3), 1998 |
Number 2 Vol.3(2), 2000 |
Number 2 Vol.1 (2), 1998 |
Number 2 Vol.2 (2), 1999 |
Number 1 Vol.3 (1), 2000 |
Number 1 Vol.2 (1), 1999 |
Number 1 Vol.1 (1), 1998 |
|
|