Abstract
Twenty-seven patients carrying marker chromosomes were previously collected, characterized by cytogenetic techniques, and identified by stepwise fluorescence in situ hybridization (FISH) with alpha-satellite DNA probes. Clinical features of 22 patients are described here and compared to other patients with marker chromosomes similarly identified and reported in the literature.
Similar content being viewed by others
References
Buckton KE, Spowart G, Newton MS, Evans HJ (1985) Forty-four probands with an additional “marker” chromosome. Hum Genet 69:353–370
Callen DF, Freemantle CJ, Ringenbergs ML, Baker E, Eyre HJ, Romain D, Haan EA (1990a) The isochromosome 18p syndrome: confirmation of cytogenetic diagnosis in nine cases by in situ hybridization. Am J Hum Genet 47:493–498
Callen DF, Ringenbergs ML, Fowler JCS, Freemantle CJ, Haan EA (1990b) Small marker chromosomes in man: origin from pericentric heterochromatin of chromosomes 1, 9, and 16. J Med Genet 27:155–159
Callen DF, Eyre HJ, Ringenbergs ML, Freemantle CJ, Woodroffe P, Haan EA (1991) Chromosomal origin of small ring marker chromosomes in man: characterization by molecular genetics. Am J Hum Genet 48:769–782
Chudley AE, Zheng HZ, Pabello PD, Shia G, Wang HC (1983) Familial supernumerary microchromosome mosaicism: phenotypic effects and an attempt at characterization. Am J Med Genet 16:89–97
Condron CJ, Cantwell RJ, Kaufman RL, Brown SB, Warren RJ (1974) The supernumerary isochromosome 18 syndrome (18pi). Birth Defects 10:36–42
Dahoun-Hadoun S, Delozier-Blanchet C (1990) Reflections on small supernumerary (marker) chromosomes: could imprinting and isodisomy play a role in the phenotypic expression of hyperdiploidy? Ann Genet 33:241–242
Grompe M, Rao N, Elder FFB, Caskey CT, Greenberg F (1992) 45,X/46,X+r(X) can have a distinct phenotype different from Ullrich-Turner syndrome. Am J Med Genet 42:39–43
Koch J, Kolvraa S, Hobolt N, Peterson GB, Willard HF, Waye JS, Gregersen N, Bolund L (1990) A case of 46,XX,r(X)(p1q1) diagnosed by in situ hybridization. Clin Genet 37:216–220
Kushnick T, Irons TG, Wiley JE, Gettig EA, Rao KW, Bowyer S (1987) 45,X/46,Xr(X) with syndactyly and severe mental retardation. Am J Med Genet 28:567–574
Marschio P, Zuffards O, Bernardi F, Bozzola M, De Paoli C, Fonatsch C, Flatz SD, Ghersini L, Gimelli G, Loi M, Lorini R, Peretti D, Poloni L, Tonetti D, Vanni R, Zamboni G (1981) Preferential maternal derivation in inv dup(15). Hum Genet 57:345–350
McDermid HE, Duncan AE, Brasch KR, Holden JJA, Magenis E, Sheeny R, Burn J, Kardon N, Noel B, Schinzel A, Tshima I, White BN (1986) Characterization of the supernumerary chromosome in cat-eye syndrome. Science 232:646–648
Plattner R, Heerema NA, Patil SR, Howard-Peebles PN, Palmer CG (1991) Characterization of seven DA/DAPI-positive bisatellited marker chromosomes by in situ hybridization. Hum Genet 87:290–296
Plattner R, Heerema NA, Yurov YB, Palmer CG (1993) Stepwise hybridization with alpha-satellite DNA probes: a method for identifying marker chromosomes. Hum Genet 91:131–140
Smith A, Dulk GD, Lipson A, Suter M (1989) Classical Prader-Willi syndrome with trisomy 15 (pter-q12) plus de novo variant 15p11. Ann Genet 32:39–42
Steinbach P, Djalali M, Hansmann I, Kattner E, Meisel-Stosiek M, Probeck HD, Schmidt A, Wolf M (1983) The genetic significance of accessory bisatellited marker chromosomes. Hum Genet 65:155–164
Van Dyke DL, Wiktor A, Palmer CG, Miller DA, Witt M, Babu VR, Worsham MJ, Roberson JR, Weiss L (1992) Ullrich-Turner syndrome with a small ring X chromosome and presence of mental retardation. Am J Med Genet 43:996–1005
Warburton D (1991) De novo balanced chromosome rearrangements and extra marker chromosomes identified at prenatal diagnosis: clinical significance and distribution of breakpoints. Am J Hum Genet 49:995–1013
Willard HF, Latt SA (1976) Analysis of deoxyribonucleic acid replication in human X chromosomes by fluorescence microscopy. Am J Hum Genet 28:213–227
Wisniewski LP, Witt ME. Ginsberg-Fellner F, Wilner J, Desnick RJ (1980) Prader-Willi syndrome and a bisatellited derivative of hromosome 15. Clin Genet 18:42–47
Zannotti M, Giovanardi PR, Dallapiccola B (1980) Extra dicentric 15pter-q21/22 chromosomes in five unrelated patients with a distinct syndrome of progressive psychomotor retardation, seizures, hyper-reactivity and dermatoglyphic abnormalities. J Ment Defic Res 24:235–242
Author information
Authors and Affiliations
Rights and permissions
About this article
Cite this article
Plattner, R., Heerema, N.A., Howard-Peebles, P.N. et al. Clinical findings in patients with marker chromosomes identified by fluorescence in situ hybridization. Hum Genet 91, 589–598 (1993). https://doi.org/10.1007/BF00205086
Received:
Revised:
Issue Date:
DOI: https://doi.org/10.1007/BF00205086