Summary
Pericentric inversion of chromosome 9, a common abnormality, has been much studied because of its possible genetic effect. Apart from total inversion, in which the whole heterochromatic segment of chromosome 9 appears to be situated on the short arm, some authors describe partial inversion, in which the heterochromatin is found partly on the long arm and partly on the short arm.
Our study indicates that firstly, the heterochromatic segment of chromosome 9 is composed of two biochemically different subunits: the heterochromatin of the centromere itself and the heterochromatin of the secondary constriction. Secondly, it suggests that partial inversion of the secondary constriction of chromosome 9 is an unusual event, as the majority of published cases can be interpreted as the result of an increase in the centromeric heterochromatin without alteration of the secondary constriction.
Similar content being viewed by others
References
Arrighi FE, Hsu TC (1971) Localization of heterochromatin in human chromosomes. Cytogenetics 10:81–86
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
Bortotto L, Baccichetti C, Lenzini E, Tenconi R, Delendi N, Caufin D (1980) Cytogenetic survey of couples with habitual abortion and other reproductive wastage. Clin Genet 17:56
Boue J, Taillemite JL, 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
Brown T, Robertson FW, Dawson BM, Hanlin SJ, Page BM (1980) Individual variation of centric heterochromatin in man. Hum Genet 55:367–373
Buckton KE, O'Riordan ML, Jacobs PA, Robinson JA, Hill R, Evans HL (1976) C and Q band polymorphisms in the chromosomes of three human populations. Ann Hum Genet 40:99–112
Buys CHCM, Gouw WL, Blenkers JAM, Van Dalen CH (1981) Heterogeneity of human chromosome 9 constitutive heterochromatin as revealed by sequential distamycin A/DAPI staining and C-banding. Hum Genet 57:28–30
Chapelle de la P, Schröder J, Stenstrand K, Fellman J, Herva R, Saarni M Anttolainen I, Tallila I, Tervila L, Husa L, Tallqvist G, Robson EB, Cook PJL, Sanger R (1974) Pericentric inversions of human chromosomes 9 and 10. Am J Hum Genet 26:746–766
Craig-Holmes AP, Shaw MW (1971) Polymorphisms of human constitutive heterochromatin. Science 174:702–704
Craig-Holmes AP, Moore FB, Shaw MW (1973) Polymorphism of C-band heterochromatin. I. Frequency of variants. Am J Hum Genet 25:181–192
Dar H, Winter ST (1969) A cytogenetic study of familial deafness. J Med Genet 6:298–303
Dutrillaux B, Lejeune J (1971) Sur une nouvelle technique d'analyse du caryotype humain. CR Acad Sci [D] (Paris) 272:2638
Dutrillaux B, Couturier J (1972) Techniques d'analyses chromosomiques. In: Hartmann L, Lejeune J (eds) Biologie génétique (Monographie annuelle de la Société Française de Biologie Clinique). Expansion Scientifique, Paris, p 5
Emerit I, Vernant P (1968) Anomalie d'un chromosome du groupe C chez plusieurs membres d'une même famille. Humangenetik 6:326–334
Ferguson-Smith MA, Ferguson-Smith ME, Ellis PM, Dickson M (1962) The sites and relative frequencies of secondary constrictions in human somatic chromosomes. Cytogenetics 1:325–343
Ferguson-Smith MA (1974) Autosomal polymorphisms. Birth Defects 10:19–29
Fraccaro M, Hansson K, Lindsten J, Tiepolo L (1971) Specific instability of the paracentric region of chromosome number 9 in a normal woman and her mongoloid son. Ann Genet 14:149–152
Gagne R, Laberge C (1972) Specific cytologic recognition of the heterochromatic segment of number 9 chromosome in man. Exp Cell Res 73:239–242
Gerald PS, Walzer S (1970) In: Jacobs PA, Price WH, Law P (eds) Human population cytogenetics. Edinburgh University Press, Edinburgh, p 143
Giraud F, Mattei JF, Mattei MG, Ayme S (1979) Les inversions péricentriques; à propos de 47 observations. J Genet Hum 27:109–122
Hansmann I (1976) Structural variability of human chromosome 9 in relation to its evolution. Hum Genet 31:247–262
Hansmann I, Keutel J (1975) A subtelocentric chromosome 9 in a dysplasic 18-year-old boy with dissociated mental development. Humangenetik 30:287–289
Jacobs PA, Melville M, Ratcliffe S (1974) A cytogenetic survey of 11 680 newborn infants. Ann Hum Genet 37:359–374
Jones KW, Prosser J, Corneo G, Ginelli E (1973) The chromosomal location of human satellite DNA III. Chromosoma 42:445–451
Lubs HA, Ruddle FH (1970) In: Jacobs PA, Price WH, Law P (eds) Human population cytogenetics. Edinburgh University Press, Edinburgh, p 119
Lubs HA, Ruddle FH (1971) Chromosome polymorphism in American negro and white populations. Nature 233:134–136
Madan K, Bobrow M (1974) Structural variation in chromosome no. 9. Ann Genet (Paris) 17:81–86
Mattei JF, Mattei MG, Ardissone JP, Taramasco H, Giraud F (1980) Pericentric inversion, inv(9)(p22q32). in the father of a child with a duplication-deletion of chromosome 9 and gene dosage effect for adenylate kinase-1. Clin Genet 17:129–136
Mattei MG, Mattei JF, Ayme S, Malpuech G, Giraud F (1978) A dynamic study in two new cases of X chromosome translocations. Hum Genet 41:251–257
McKenzie WH, Lubs HA (1975) Human Q and C chromosomal variations: distribution and incidence. Cytogenet Cell Genet 14: 97–115
Metaxotou C, Kalpini-Mavrou A, Panagou M, Tsenghi C (1978) Polymorphism of chromosome 9 in 600 Greek subjects. Am J Hum Genet 30:85–89
Moores EC, Anders JM, Emanuel R (1966) Inheritance of marker chromosomes from a cytogenetic survey of congenital heart disease. Ann Hum Genet 30:77–84
Muller H, Klinger HP, Glasser M (1975) Chromosome polymorphism in a human newborn population. II. Potantials of polymorphic chromosome variants for characterizing the idiogram of an individual. Cytogenet Cell Genet 15:239–255
Mutton DE, Daker MG (1973) Pericentric inversion of chromosome 9. Nature (New Biol) 241:80
Natarajan AT, Ahnström G (1969) Heterochromatin and chromosome aberrations. Chromosoma 28:48–61
Palmer CG, Schroder J (1971) A familial variant of chromosome 9. J Med Genet 8:202–208
Patau K, Therman E, St-Inhorn L, Smith DW, Ruess AL (1961) Partial trisomy syndromes. II. An insertion as cause of the OFD syndrome in a mother and a daughter. Chromosoma 12:573–584
Pescia G, Gaide AC, Juillard E (1977) Trois familles avec inversion péricentrique du chromosome 9 (invC9). J Genet Hum 25:121–134
Phillips RB (1977) Inheritance of Q and C band polymorphisms. Can J Genet Cytol 19:405–413
Phillips RB (1980) New C band markers of human chromosomes: C band position variants. J Med Genet 17:380–385
Reeves BR, Lawler SD (1970) Preferential breakage of sensitive regions of human chromosomes. Humangenetik 8:295–301
Saunders GF, Shirakawa S, Saunders PO, Arrighi FE, Hsu TC (1972) Population of repeated DNA sequences in the human genome. J Molec Biol 63:323–334
Schinzel A, Hayashi K, Schmid W (1974) Mosaic-trisomy and pericentric inversion of chromosome 9 in a malformed boy. Humangenetik 25:171–177
Schmid W, Vischer D (1969) Spontaneous fragility of an abnormally wide secondary constriction region in a human chromosome 9 no. 9. Humangenetik 7:22–27
Shabtai F, Halbrecht I (1979) Risk of malignancy and chromosomal polymorphism: a possible mechanism of association. Clin Genet 15:73–77
Tejada I, Soler A, Salami C, Cararach J, Fortuny A (1980) Chromosomal polymorphic variants in couples with recurrent spontaneous abortions. Clin Genet 17:90
Tharapel AT, Summit RL (1978) Minor chromosome variations and selected heteromorphisms in 200 unclassificable mentally retarded patients and 200 normal controls. Hum Genet 41:121–130
Turleau C, Plachot M, Chavin-Colin F, Roubin M, Langmaid H, Lochet C, Blanc Brude M, Lety MA, Grouchy J de (1975) Distribution des points de cassure chromosomique dans les remaniements constitutionnels. Lyon Med 233:329–335
Wahrman J, Atidia J, Goitein R, Cohen T (1972) Pericentric inversions of chromosome 9 in two families. Cytogenetics 11:132–144
Wang HS, Hamerton JL (1979) C-band polymorphisms of chromosomes 1, 9, and 16 in four subgroups of mentally retarded patients and a normal control population. Hum Genet 51:269–275
Zabel B, Hansen S, Hillig U, Groeting Imhof H (1977) A girl with partial long arm deletion of chromosome 11 and familial pericentric inversion of chromosome 9. Hum Genet 36:117–122
Author information
Authors and Affiliations
Additional information
Supported by grants from INSERM (A.T.P. 79-110)
Rights and permissions
About this article
Cite this article
Mattei, M.G., Mattei, J.F., Guichaoua, M. et al. Partial inversion of the secondary constriction of chromosome 9. Does it exist?. Hum Genet 59, 310–316 (1981). https://doi.org/10.1007/BF00295463
Received:
Issue Date:
DOI: https://doi.org/10.1007/BF00295463