48,XXXX, A RARE ANEUPLOIDY
Kaur A1,*, Pandhi M2, Singh JR1
*Corresponding Author: Dr. Anupam Kaur, Reader, Centre for Genetic Disorders, Guru Nanak Dev University, 143005 G.T. Road, Amritsar, India; Tel.: +91-183-2258802/2258809, Ext. 3277; Fax: +91-183-2258863; University Fax: 2258820; E-mail:anupamkaur@yahoo.com
page: 65

REFERENCES

1. Carr DH, Barr ML, Plunkett ER. An XXXX sex chromosome complex in two mentally defective females. Canadian Med Assoc J 1961; 84: 131-137.

2. Chromosomal Variation in Man Online http://jws-edck.wiley.com:8096/Borgaonkar/cytocat.nsf

3. Kaur A, Mahajan S, Singh JR. Cytogenetic investigation in mentally retarded individuals. Int J Hum Genet 2003; 3(1): 13-16.

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

5. Delsi LE, Friedrich U, Wahlstrom J, Boccio-Smith A, Forsman A, Eklund K, Crow T J. Schizophrenia and sex chromosome anomalies. Schizophr Bull 1994; 20(3): 495-505.

6. Cammarata M, Simone P, Graziano L, Giuffre M, Corsello G. Rare sex chromosome aneuploidies in humans. Report of six patients with 48,XXYY, 49,XXXXY and 48,XXXX karyotypes. Am J Med Genet 1999; 85(1): 86-87.

7. Rooman RP, Van Driessche K, Du Caju MV. Growth and ovarian function in girls with 48,XXXX karyotype--patient report and review of the literature. J Pediatr Endocrinol Metab 2002; 15(7): 1051-1055.

8. Agarwal KN, Saxena A, Bansal AK, Agarwal DK. Physical growth assessment in adolescence. Indian Pediatr 2001; 38(11): 1217-1235.

9. Hara S, Haywood BD, Davis KK, Sherill MV, Blackshear A, Crump EP. A black female with the 48,XXXX chromosome constitution. Am J Mental Deficiency 1975; 79(4): 464-466.

10. Bergmann E. Manifestation familiale du karyotype triplo X. Communication preliminaire. J Genet Hum 1961; 10: 370-371.

11. Blackstone RD, Grinzaid KS, Saxe DF. Reproduction in 48,XXXX women. Am J Med Genet 1994; 52: 379.

12. Hassold T, Pettay D, May K, Robinson A. Analysis of non-disjunction in sex chromosome tetrasomy and pentasomy. Hum Genet 1990; 85(6): 648-650.




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