PARENTAL ORIGIN AND CELL STAGE ERRORS IN X-CHROMOSOME POLYSOMY 49,XXXXY
Guzel AI1,*, Demirhan O1, Pazarbasi A1, Yuksel B2
*Corresponding Author: Ali Irfan Guzel, Ph.D., Department of Medical Biology and Genetics, Faculty of Medicine, Çukurova University, 01330 Adana, Turkey; Tel.: +90-322-338-70-68; Fax: +90-322-338-70-65; E-mail: aliirfan@cu.edu.tr
page: 45

REFERENCES

1. Visootsak J, Graham JM Jr. Klinefelter syndrome and other sex chromosomal aneuploidies. Orphanet J Rare Dis 2006; 1: 42.

2. Fraccaro M, Kaijser K, Lindsten J. A child with 49 chromosomes. Lancet 1960; 2(7156): 899-902.

3. Jacobs PA, Strong JA. A case of human intersexuality having possible XXY sex-determining mechanism. Nature 1959; 183(4657): 164-167.

4. Peet J, Weaver DD, Vance GH. 49,XXXXY: a distinct phenotype. Three new cases and review. J Med Genet 1988; 35(5): 420-424.

5. Thompson MW, McInnes RR, Huntington WF, Eds. Thompson & Thompson Genetics in Medicine, 5 ed. Philadelphia: W.B. Saunders Company. 1991; 172-175.

6. Hirschhorn K, Hirschhorn R, Fraccaro M, Book JA. Incidence of familial hyperlipemia. Science 1959; 129(3350): 716-717.

7. Demirhan O. Clinical findings and phenotype in a toddler with 48,XXYY syndrome. Am J of Med Genet 2003; 119A(3): 393-394.

8. Griffin JE, Wilson JD. Disorders of the testes and male reproductive tract. In: Wilson JD, Foster DW, Eds. Williams Text Book of Endocrinology. Philadelphia: W.B. Saunders Company. 1992; 884-884.

9. Lia EN, Otero SAM, Ferraz M, Gonçalves LPV. Oral aspects of 49, XXXXY syndrome: a case report. J Dentist Childr 2007; 74(2): 136-139.

10. Adinolfi M, Pertl B, Sherlock J. Rapid detection of aneuploidies by microsatellite and the quantitative fluorescent polymerase chain reaction. Prenat Diagn 1997; 17(13): 1299-1311.

11. Diego-Alvarez D, Ramos-Corrales C, Garcia-Hoyos M, Bustamante-Aragones A, Cantalapiedra D, Diaz-Recasens J, Vallespin-Garcia E, Ayuso C, Lorda-Sanchez I. Double trisomy in spontaneous miscarriages: cytogenetic and molecular approach. Hum Reprod 2006; 21(4): 958-966.

12. Lamb NE, Freeman SB, Savage-Austin A, Pettay D, Taft L, Hersey J, Gu Y, Shen J, Saker D, May KM, Avramopoulos D, Petersen MB, Hallberg A, ikkelsen M, Hassold TJ, Sherman SL. 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.

13. Nicolaidis P, Petersen MB. Origin and mechanisms of nondisjunction in human autosomal trisomies. Hum Reprod 1998; 13(2): 313-319.

14. Robinson WP, Bernasconi-Quadroni F, Lau A, McFadden DE. Frequency of meiotic trisomy depends on involved chromosome and mode of ascertainment. Am J Med Genet 1999; 84(1): 34-42.

15. Guzel AI, Demirhan O, Pazarbasi O, Ozgunen FT, Kocaturk-Sel S, Tastemir D. Detection of parental origin and cell stage errors of a double nondisjunction in a fetus by QF-PCR. Genet Test Molec Biomark 2009; 13(1): 73-77.

16. Celik A, Eraslan S, Gokgoz N, Ilgin H, Basaran S, Bokesoy I, Kayserili H, Yuksel-Apak M, Kirdar Betul. Identification of the parental origin of polysomy in two 49,XXXXY cases. Clinic Genet 1997; 51(6): 426-429.

17. Deng H-X, Abe K, Kondo I, Tsukahara M, Inagaki H, Hamada Isamu, Fukushima Yoshimitsu and Niikawa N. Parental origin and mechanism of formation of polysomy X: an XXXXX case and four XXXXY cases determined with RFLPs. Hum Genet 1986; 86(6): 541-544.

18. Linden MG, Bender BG, Robinson A. Sex chromosome tetrasomy and pentasomy. Pediatrics 1995; 96(4, Pt. 1):672-682.

19. Sijmons RH, van Essen AJ, Visser JD, Iprenburg M, Nelck GF, Vos-Bender ML, de Jong B. Congenital knee dislocation in a 49, XXXXY boy. J Med Genet 1995; 32(4): 309-311.

20. Hayek A, Riccardi V, Atkins L, Hendren H. 49,XXXXY chromosomal anomaly in a neonate. J Med Genet 1971; 8(2): 220-221.

21. Jones KL. XXY syndrome, Klinefelter syndrome. In: Jones KL, Ed. Smith’s Recognizable Patterns of Human Malformation, 5th ed. Philadelphia: W.B. Saunders. 1997; 72-77.

22. Borghgraef M, Fryns JP, Van Den Berghe H. The 48,XXYY syndrome: follow-up data on clinical characteristics and psychological finding in 4 patients. Genet Counsel 1991; 2(2): 103-108.

23. Garvey M, Mutton DE. Sex chromosome observations and speech development. Arch Dis Child 1973; 48(12): 937-941.

24. Steward DA, Bailey JD, Netley CT, Rovet J, Park E. Growth and development of children with X and Y chromosome aneuploidy from infancy to pubertal age; the Toronto study. Birth Defects Orig Artic Ser 1982; 18(4): 99-154.




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

 

 


 About the journal ::: Editorial ::: Subscription ::: Information for authors ::: Contact
 Copyright © Balkan Journal of Medical Genetics 2006