Abstract
The lightly-stained secondary constriction of chromosome 9 by plain Giemsa distinguishes it from other C-group chromosomes (Patau et al., Lancet i:790–793, 1960; Ferguson-Smith et al., Cytogenetics 1:325–343, 1962; Palmer and Funderburk, Cytogenetics 4:261–276, 1965). By G-banding, the secondary constriction itself stains lightly, but bands on either side of the centromere typically stain as intensely as the pericentromeric regions of other chromosomes (Fig. 14.1a–i). By C-banding or DA/DAPI staining, the entire region, including the pericentromeric bands usually consists of a uniform block of dark or brightly staining heterochromatin (Fig. 14.1m, n). Sometimes, however, blocks of heterochromatin will appear to be separated by a G-positive, C-negative band (Fig. 14.1j, k). More rarely, such C-negative bands can be quite striking and have been the object of considerable study (see Euchromatic Variants). The 9qh region is also strikingly stained by Giemsa-11 (Fig. 2.4) (Bobrow et al., Nature New Biol 238:122–124, 1972; Wyandt et al., Exp Cell Res 102:85–94, 1976).
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References
Patau K, Smith DW, Therman E, Inhorn SL (1960) Multiple congenital anomalies caused by an extra chromosome. Lancet 1:790–793
Ferguson-Smith MA, Ferguson-Smith ME, Ellis OM, Dickson M (1962) The site and relative frequencies of secondary constrictions in human somatic chromosomes. Cytogenetics 1:325–343
Palmer CG, Funderburk S (1965) Secondary constrictions in human chromosomes. Cytogenetics 4:261–276
Bobrow M, Madan K, Pearson PL (1972) Staining of some specific regions of human chromosomes, particularly the secondary constriction of No. 9. Nature New Biol 238:122–124
Wyandt HE, Wysham DG, Minden SK, Anderson RS, Hecht F (1976) Mechanisms of Giemsa banding of chromosomes. Exp Cell Res 102:85–94
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, New York, pp 133–159
Funderburk SJ, Guthrie D, Lind RC, Müller HM, Sparkes RS, Westlake JR (1978) Minor chromosome variants in child psychiatric patients. Am J Med Genet 1(3):301–308
Soudek D, Sroka H (1979) Chromosomal variants in mentally retarded and normal men. Clin Genet 16:109–116
Palmer CG, Schroder J (1971) A familial variant of chromosome 9. J Med Genet 8:202–208
Fitzgerald PH (1973) The nature and inheritance of an elongated secondary constriction on chromosome 9 of man. Cytogenet Cell Genet 12:404–413
Ford JH, Lester P (1978) Chromosomal variants and nondisjunction. Cytogenet Cell Genet 21:300–303
Eiben B, Leipoldt M, Rammelsberg O, Krause W, Engel W (1987) High incidence of minor chromosomal variants in teratozoospermic males. Andrologia 19(6):684–687
Del Porto G, D’Alessandro E, Grammatico P, Coghi IM, DeSanctis S, Giambenedetti M, Vaccarella C, Fabi R, Marciano MF, Nicotra M (1993) Chromosome heteromorphisms and early recurrent abortions. Hum Reprod 8(5):755–758
Hsu LYF, Benn PA, Tannenbaum HL, Perlis TE, Carlson AD (1987) Chromosome polymorphism of 1, 9 16 and Y in 4 major ethnic groups: a large prenatal study. Am J Med Genet 26:95–101
Boue J, Taillemite JC, Hazael-Massieux P, Leonard C, Boue A (1975) Association of pericentric inversion of chromosome 9 and reproductive failure in ten unrelated families. Humangenetik 30:217–224
Madan K, Bobrow M (1974) Structural variation in chromosome no. 9. Annals Genet 17:81–86
Hansmann I (1976) Structural variability of human chromosome 9 in relation to its evolution. Hum Genet 31:247–262
Vine DT, Yarkoni S, Cohen MM (1976) Inversion homozygosity of chromosome no. 9 in a highly inbred kindred. Am J Hum Genet 28:203–207
Metaxotou C, Kalpini-Mavrou A, Panagou M, Tsengi C (1978) Polymorphism of chromosome 9 in 600 Greek subjects. Am J Hum Genet 30:85–89
Howard-Peebles PN, Stoddard GR (1976) A satellited Yq chromosome associated with trisomy 21 and an inversion of chromosome 9. Hum Genet 34:223–225
Teo SH, Tan M, Knight L, Yeo SH, Ng I (1995) Pericentric inversion 9 –incidence and clinical significance. Ann Acad Med, Singapore. 24:302–304
Schinzel A, Hayashi K, Schmid W (1974) Mosaic trisomy and pericentric inversion of chromosome 9 in a malformed boy. Humangenetik 25:171–177
Bowen P, Ying KL, Chung GSH (1974) Trisomy 9 mosaicism in a newborn infant with multiple malformations. J Pediat 85:95–97
Seabright M, Gregson M, Mould S (1976) Trisomy 9 associated with an enlarged 9qh segment in a liveborn. Hum Genet 34:323–325
Sutherland GR, Gardiner AJ, Carter RF (1976) Familial pericentric inversion of chromosome 19, inv(19)(p13q13) with a note on genetic counseling of pericentric inversion carriers. Clin Genet 10:54–59
Saunders GF, Hsu TC, Getz MJ, Simes EL, Arrighi F (1972) Locations of human satellite DNA in human chromosomes. Nature New Biology 236:244–246
Jones KW, Corneo G (1971) Location of satellite and homogeneous DNA sequences on human chromosomes. Nat New Biol 233(43):268–271
Ginelli E, Corneo G (1976) The organization of repeated DNA sequences in the human genome. Chromosoma (Berl) 56:55–69
Buhler EM, Tsuchimoto T, Jurik LP, Stalder GR (1975) Satellite DNA III and alkaline Giemsa staining. Humangenetik 26:329–333
Corneo G, Ginelli E, Polli EJ (1968) Isolation of complementary strands of a human satellite DNA. J Mol Biol 33:331
Miklos GLG, John B (1979) Heterochromatin and satellite DNA in man: Properties and prospects. Am J Hum Genet 31:264–280
Gosden JR, Mitchell AR, Buckland RA, Clayton RP, Evans HJ (1975) The location of four human satellite DNAs on human chromosomes. Exp Cell Res 92:148–158
Manuelidis L, Wu JC (1978) Homology between human and simian repeated DNA. Nature 276:92–94
Manuelidis L (1978) Complex and simple sequences in human repeated DNAs. Chromosoma 66:1–22
Willard HF (1985) Chromosome-specific organization of human alpha satellite DNA. Am J Hum Genet 37:524–532
Waye JS, Willard HF (1989) Human α-satellite DNA: Genomic organization and sequence definition of a class of highly repetitive tandem DNA. Proc Natl Acad Sci U S A 86:6250–6254
Luke S, Verma RS, Conte RA, Mathews T (1992) Molecular characterization of the secondary constriction region (qh) of human chromosome 9 with pericentric inversion. J Cell Sci 103:919–923
Ramesh KH, Verma RS (1996) Breakpoints in alpha, beta and satellite III DNA sequences of chromosome 9 result in a variety of pericentric inversions. J Med Genet 33:395–398
Samonte RV, Conte RA, Ramesh KH, Verma RS (1996) Molecular cytogenetic characterization of breakpoints involving pericentric inversions of human chromosome 9. Hum Genet 98:576–580
Vance GH, Curtis CA, Heerema NA, Schwartz S, Palmer CG (1997) An apparently acrocentric marker chromosome originating from 9p with a functional centromere without detectable alpha and beta satellite sequences. Am J Hum Genet 71:436–442
Buckton KE, O’Riordan ML, Ratcliffe S, Slight J, Mitchell M, McBeath S, Keay AJ, Barr D, Short M (1980) A G-band study of chromosomes in liveborn infants. Ann Hum Genet 43:227–239
Sutherland GR, Eyre H (1981) Two unusual G-band variants of the short arm of chromosome 9. Clin Genet 19:331–334
Jalal SM, Kukolich MK, Garcia M, Day DW (1990) Euchromatic 9q+ heteromorphism in a family. Am J Hum Genet 37:155–156
Knight LA, Soon GM, Tan M (1993) Extra G positive band on the long arm of chromosome 9. J Med Genet 30:613
Roland B, Chernos JE, Cox D (1992) M. 9qh+ variant band in two families. Am J Med Genet 42:137–138
Verma RS, Luke S, Brennan JP, Mathews T, Conte RA, Macera MJ (1993) Molecular topography of the secondary constriction region (qh) of the human chromosome 9 with an unusual euchromatic band. Am J Hum Genet 52:981–986
Wang JC, Miller WA (1994) Molecular cytogenetic characterization of two types of chromosome 9 variants. Cytogenet Cell Genet 67:190–192
Macera MJ, Verma RS, Conte RA, Bialer MG, Klein VR (1995) Mechanisms of the origin of a G-positive band within the secondary constriction region of human chromosome 9. Cytogenet Cell Genet 69:235–239
Silengo MC, Davi GF, Franeschini P (1982) Extra band in the 9qh+ chromosome in a normal father and in his child with multiple congenital anomalies. Hum Genet 60:294
Luke S, Verma RS, PeBenito R, Macera M (1991) J. Inversion-duplication of bands q13–q21 of human chromosome 9. Am J Med Genet 40:57–60
Docherty Z, Hulten MA (1985) Extra euchromatic band in the qh region of chromosome 9. J Med Genet 22:156–157
Docherty Z, Hulten MA (1993) Rare variant of chromosome 9 (letter). Am J Med Genet 45:105–106
Haddad BR, Lin AE, Wyandt H, Milunsky A (1996) Molecular cytogenetic characterization of the first familial case of partial 9p duplication (p22p24). J Med Genet 33:1045–1047
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Wyandt, H.E., Tonk, V.S. (2011). Chromosome 9. In: Human Chromosome Variation: Heteromorphism and Polymorphism. Springer, Dordrecht. https://doi.org/10.1007/978-94-007-0896-9_14
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