Abstract
Heteromorphism of the centromeric region of chromosome 6, as seen by G- and C-banding (Fig. 11.1a), was found in the New Haven study in about 3% of 7- and 8- year-olds (Lubs et al., Population cytogenetic studies in humans, pp. 133–159, 1977). About half had a small centromeric region and half a larger than average centromeric region. In a study of 92 consecutive individuals referred for cytogenetic testing, 6p11 was enlarged in size in approximately 9% of subjects (Madan and Bruinsman, Clin Genet 15:193–197, 1979). C-band heteromorphism of chromosome 6 in several families was used to establish linkage of the HLA region to chromosome 6 (Polacek et al., Clin Genet 23:177–185, 1983).
This is a preview of subscription content, log in via an institution to check access.
Access this chapter
Tax calculation will be finalised at checkout
Purchases are for personal use only
References
Lubs HA, Patil SR, Kimberling WJ, Brown J, Cohen M, Gerald P, Hecht F, Myrianthopoulos N, Summit RL (1977) Q and C-banding polymorphisms in 7 and 8 year old children: racial differences and clinical significance. In: Hook EB, Porter IH (eds) Population cytogenetic studies in humans. Academic Press, New York, pp 133–159
Madan K, Bruinsman AH (1979) C-band polymorphism in human chromosome no. 6. Clin Genet 15:193–197
Polacek LA, Phillips RB, Hackbarth SA, Duquesnoy RJ (1983) A linkage study of the HLA region using C-band heteromorphisms. Clin Genet 23:177–185
Jabs EW, Wolf SF, Migeon BR (1984) Characterization of a cloned DNA sequence that is present at the centromeres of all human autosomes and the X chromosome and shows polymorphic variation. Proc Natl Acad Sci U S A 81:4884–4888
Jabs EW, Carpenter N (1988) Molecular cytogenetic evidence for amplification of chromosome-specific alphoid sequences at enlarged C-bands on chromosome 6. Am J Hum Genet 43:69–74
Lin MS, Zhang A, Fujimoto A, Wilson MG (1994) A rare 6q11+ heteromorphism: cytogenetic analysis and in situ hybridization. Hum Hered 44:31–36
Jalal SM, Ketterling RP (2004) Euchromatic Variants. In Wyandt HE, Tonk VS (eds) Atlas of human chromosome heteromorphisms. Kluwer Academic, Dordrecht, pp 75–95
Kumar A, Cassidy SB, Romero L, Schwartz S (1999) Molecular cytogenetics of a de novo interstitial deletion of chromosome arm 6q in a developmentally normal girl. Am J Med Genet 86:227–231
Matkins SV, Meyer JE, Berry AC (1987) A child with partial monosomy 6q secondary to a maternal direct insertional event. J Med Genet 24:227–229
Christian SL, Rich BH, Loebl C, Israel J, Vasa R, Kittikamron K, Spiro R, Rosenfield R, Ledbetter DH (1999) Significance of genetic testing for paternal uniparental disomy of chromosome 6 in neonatal diabetes mellitus. J Pediatr 134:42–46
Author information
Authors and Affiliations
Corresponding authors
Rights and permissions
Copyright information
© 2011 Springer Science+Business Media B.V.
About this chapter
Cite this chapter
Wyandt, H.E., Tonk, V.S. (2011). Chromosome 6. In: Human Chromosome Variation: Heteromorphism and Polymorphism. Springer, Dordrecht. https://doi.org/10.1007/978-94-007-0896-9_11
Download citation
DOI: https://doi.org/10.1007/978-94-007-0896-9_11
Published:
Publisher Name: Springer, Dordrecht
Print ISBN: 978-94-007-0895-2
Online ISBN: 978-94-007-0896-9
eBook Packages: Biomedical and Life SciencesBiomedical and Life Sciences (R0)