Summary
Q-and C-band heteromorphisms were determined by sequentially staining cells from 81 members of an American Black kindred. The incidence of heteromorphs is reported for 14-people who married into the family.
Small pericentric inversions of chromosome 3 were found in 23 kindred members, three of whom were homozygous. Six ‘complete’ chromosome 9 inversions and a single ‘partial’ inv9 were detected. There was no apparent phenotypic effect associated with the inversions, nor were duplication-deficiency chromosomes observed.
Evidence for preferential segregation of Q-heteromorphs is reported, and comparison with data from other authors points to chromosome 13 as showing the most distortion.
Similar content being viewed by others
References
Allderdice PW, Browne N Murphy DP (1975) Chromosome 3 duplication q21→qter deletion p25→pter syndrome in children of carriers of a pericentric inversion inv(3)(p25q21). Am J Hum Genet 27:699–718
Boué J, Hirschhorn K, Lucas M, Gautier M, Moszer M, Back C (1974) Aneusomie de recombinaison, conséquences d'une inversion péricentrique d'un chromosome 3 paternal. Ann Pédiat 21:567–573
Boué J, Taillemite JC, Hazel-Massieux P, Léonard C, Boué A (1975) Association of pericentric inversion of chromosome 9 and reproductive failure in ten unrelated families. Humangenetik 30:217–224
Carnevale A, Ibañez BB, Del Costillo U (1976) The segregation of C-band polymorphisms on chromosomes 1, 9, and 16. Am J Hum Genet 28:412–416
Craig-Holmes AP, Moore FB, Shaw MW (1975) Polymorphism of human C-band heterochromatin. II. Family studies with suggestive evidence for somatic crossing over. Am J Hum Genet 27:178–189
Fogle TA, Namboodiri KK, Elston RC, McKenzie WH, Hames CG (1980) Linkage relationships of biochemical markers to Q- and C-band variants in a large Black kindred. Hum Genet 55:353–356
Ford JH, Lester P (1978) Chromosomal variants and nondisjunction: increased hyperploid cells with 9h+ and 9inv. Cytogenet Cell Genet 21:300–303
Geraedts JPM, Pearson PL (1974) Fluorescent chromosome polymorphisms: Frequencies and segregation in a Dutch population. Clin Genet 6:247–257
Jacobs PA (1977) Human chromosome heteromorphisms. In: Steinberg CAG, Bearn AG, Motulsky AG, Child B (eds) Progress in medical genetics, new series, Vol II. Saunders, Philadelphia, pp 251–274
Lubs HA, Ruddle FH (1971) Chromosome polymorphism in American Negro and White populations. Nature 233:134–136
Lubs HA, Patil SA, Kimberling WJ, Brown J, Cohen M, Gerald P, Hecht F, Myrianthopolous N, Summitt RL (1977) Q and C banding polymorphisms in seven and eight year old children: Racial differences and clinical significance. In: Hook E, Porter I (eds). Population cytogenetics: Studies in humans. Academic Press, New York, pp 133–159
Maden K (1978) An extra band in human 9qh+ chromosomes. Hum Genet 43:259–264
Magenis E, Palmer CG, Wang L, Brown M, Chamberlin J, Parks M, Merritt AD, Rivas M, Yu PL (1977) Heritability of chromosome banding variants. In: Hook E, Porter I (eds) Population cytogenetics: Studies in humans. Academic Press, New York, pp 179–188
Mayer M, Matsuura J, Jacobs P (1978) Inversions and other unusual heteromorphisms detected by C-banding. Hum Genet 45:43–50
McKenzie WH, Lubs HA (1975) Human Q and C chromosomal variations: Distribution and incidence. Cytogenet Cell Genet 14:97–115
Mikelsaar AV, Ilus T, Kivi S (1978) Variant chromosome 3 (inv3) in normal newborns and their parents, and in children with mental retardation. Hum Genet 41:109–113
Müller HJ, Klinger HP (1975) Chromosome polymorphism in a human newborn population—Part 1. In: Pearson PL, Lewis KR (eds) Chromosomes today, Vol 5. John Wiley and Sons, Jerusalem, pp 249–260
Paris Conference (1971) Standardization in human cytogenetics. Birth Defects Orig Art Ser VIII/7. New York, National Foundation (1972)
Patil SR, Lubs HA (1977) Classification of qh regions in human chromosomes 1, 9, and 16 by C-banding. Hum Genet 38:39–48
Phillips RB (1977) Inheritance of Q and C band polymorphisms. Can J Genet Cytol 19:405–413
Robinson JA, Buckton KE, Spowart G, Newton M, Jacobs PA, Evans HJ, Hill R (1976) The segregation of human chromosome polymorphisms. Ann Hum Genet 40:113–121
Robinson JA, Buckton KE, Evans HJ (1978) A possible mutation of a fluorescence polymorphism. Ann Hum Genet 41:323–328
Soudek D, O'Shaughnessy S, Laraya P, McCreary BD (1974) Pericentric inversion of ‘fluorescent’ segment in chromosome no. 3. Humangenetik 22:343–346
Soudek D, Sroka H (1978) Inversion of ‘fluorescent’ segment in chromosome 3: A polymorphic trait. Hum Genet 44:109–115
Sumner AT (1972) A simple technique for demonstrating centromeric heterochromatin. Exp Cell Res 75:304–306
Van Dyke DL, Palmer CG, Nance WE, Yu PL (1977) Chromosome polymorphism and twin zygosity. Am J Hum Genet 29:431–447
Winsor EJT, Palmer CG, Ellis PM, Hunter JLP, Ferguson-Smith MA (1978) Meiotic analysis of a pericentric inversion inv(7)(p22q32), in the father of a child with a duplication-deletion of chromosome 7. Cytogenet Cell Genet 20:169–184
Author information
Authors and Affiliations
Rights and permissions
About this article
Cite this article
Fogle, T.A., McKenzie, W.H. Cytogenetic study of a large black kindred: Inversions, heteromorphisms, and segregation analysis. Hum Genet 55, 345–352 (1980). https://doi.org/10.1007/BF00290216
Received:
Issue Date:
DOI: https://doi.org/10.1007/BF00290216