Summary
The karyotype of a child with dysmorphic findings suggestive of both trisomy 13 and the 13q-syndrome was found to have cells with one of two different dicentric chromosomes: one bearing a duplication of chromosome 13q [46,XX,-13, + psu dic(13)t(13;13)(pter→ce→q34::q34→pter)] and the other a deletion of 13q [46,XX,-13,+psu dic(13)t(13;13)(pter→cen→q22::q11→pter). Longitudinal cytogenetic studies in leukocytes demonstrated a loss of those cells possessing the small dicentric [psu dic(13)(q22;q11)], whereas fibroblasts from two separate skin biopsies contained only this marker. Q-band polymorphisms indicated that both dicentrics were of paternal origin, with the smaller dicentric derived from the larger via the bridge-breakage-fusion cycle. The presence of two active centromeres could not be confirmed in either dicentric.
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References
Al-Nassar KE (1979) The distribution of genetic markers and Q-band heteromorphisms in the Kuwaiti population. Ph. D. Thesis, Indiana University
Bartsch-Sandhoff M, Schade H (1973) Zwei subterminale Heterochromatinregionen bei einer seltenen Form einer 21/21-Translokation. Hum Genet 18:329–336
Berg JM, Gardner HA, Gardner RJM, Goh EG, Markovic VD, Simpson NE, Worton RG (1980) Dic(21;21) in a Down's syndrome child with an unusual chromosome 9 variant in the mother. J Med Genet 17: 144–148
Cantu JM, Hernandez A, Plascencia L, Vaca G, Moller M, Rivera H (1980) Partial trisomy and monosomy 21 in an infant with an unusual de novo 21/21 translocation. Ann Genet (Paris) 23:183–186
de Grouchy J, Turleau C (1977) Clinical atlas of human chromosomes. John Wiley, New York
de la Chapelle A, Stenstrand K (1974) Dicentric human X chromosomes. Hereditas 76:259–268
Dewald GW, Boros SJ, Conroy MM, Dahl RJ, Spurbeck JL, Vitek HA (1979) A tdic (5;15)(p13;p11) chromosome showing variation for constriction in the centromeric regions in a patient with the cri du chat syndrome. Cytogenet Cell Genet 24:15–26
Disteche C, Hagemeijer A, Frederic J, Progneaux D (1972) An abnormal large human chromosome identified as an end-to-end fusion of two X's by combined results of the new banding techniques and microdensitometry. Clin Genet 3:388–395
Eiberg H (1974) New selective Giemsa technique for human chromosomes, Cd staining. Nature 248:55
Evans HJ, Ross A (1974) Spotted centromeres in human chromosomes. Nature 249:861–862
Ford CE (1967) Discussion of DNA replication patterns of chromosomes numbers 21–22 in female mosaic Mongols. In: Wolstenholme GEW Porter R (eds) Mongolism. CIBA Foundation Study Group No. 25. Little Brown and Company, Boston, p 71
Fraccaro M, LoCurto F, Vogel W (1978) Nuclear projections and latent centromeres in primary cultures and established cell lines. In: Barigozzi C (ed) Origin and natural history of cell lines. Prog Clin Biol Res 26:181–202
Gorlin RJ (1977) Classical chromosome disorders. In: Yunis JJ (ed) New chromosomal syndromes. Academic Press, New York, pp 60–117
Goto K, Meada S, Kano Y, Sugiyama T (1978) Factors involved in differential Giemsa-staining of sister chromatids. Chromosoma 66: 351–389
Hagemeijer A, Smit EME (1977) Partial trisomy 21. Further evidence that trisomy of band 21q22 is essential for Down's phenotype. Hum Genet 38:15–23
Hair JB (1953) The origin of new chromosomes in Agropyron. Hereditas 6:215–233
Hassold T, Wisniewski L, Higgins JV (1977) A syndrome of mental retardation associated with extra dicentric chromosomes. Am J Hum Genet 29:A53
Hodes ME, Cole J, Palmer CG, Reed T (1978) Clinical experience with trisomies 18 and 13. J Med Genet 15:48–60
Howell WM, Black DA (1980) Controlled silver-staining of nucleolus organizer regions with a protective colloidal developer: A 1-step method. Experientia 36:1014–1015
Hsu TC, Pathak S, Cailleau R, Cowles SR (1974) Nature of nuclear projections in an adenocarcinoma of the breast. Lancet II:847
Jernigan D, Curl N, Keeler C (1974) Milledgeville mongoloid: A rare karyotype of Down's syndrome. J Hered 65:254–257
Karukaya S, Ono E, Yokoyama H, Yanagisawa S, Takagishi S (1978) Two cases of dicentric chromosomes. Jinrui Idengaku Zasshi 23:297
Laurent C, Biemont M-C, Philip T, Dutruge J, Bellon G, Bethenod M, Gilly R, Ladreyt JF (1978) Translocation termino-terminales de novo entre deux chromosomes 18. A propos de deux observations 46,XY, ter rea (18;18)(pter;pter). Ann Genet (Paris) 21:78–82
Madan K, Vlasveld L, Barth PG (1981) Ring-18 and isopseudodicentric-18 in the same child: A hypothesis to account for common origin. Ann Genet (Paris) 24:12–16
Maraschio P, Zuffardi O, LoCurto F (1980) Cd bands and centromeric function in dicentric chromosomes. Hum Genet 54:265–267
Nichols WW, Miller RC, Hoffman E, Albert D, Weichselbaum RR, Nove J, Little JB (1979) Interstitial deletion of chromosome 13 and associated congenital anomalies. Hum Genet 52:169–173
Oka S, Nakagome Y, Teramura F, Hosono F, Katumata M (1977) Trisomy/partial monosomy mosaicism of No. 13 pair [46,XX,-13 rob(13q13q)/46,XX r(13)(p11q34). Jinrui Idengaku Zasshi 22: 73–78
Schreck RR, Breg WR, Erlanger BF, Miller OJ (1977) Preferential derivation of abnormal human G-group-like chromosomes from chromosome 15. Hum Genet 36:1–12
Sears ER, Camara A (1952) A transmissible dicentric chromosome. Genetics 37:125–135
Skovby F, Niebuhr E (1976) Centromeric inactivation in dicentric human chromosomes. Excerpta Medica International Congress Series No. 397. Elsevier/North Holland Inc, New York, NY, USA, pp 153–154
Stack SM (1974) Differential Giemsa staining of kinetochores and nucleolus organizer heterochromatin in mitotic chromosomes of higher plants. Chromosoma 47:361–378
Stengel-Rutkowski S, Zankl H, Rodewald A, Scharrer S, Chauduri JP, Zang KD (1976) Aspermia, associated with a presumably balanced X/autosome translocation. Hum Genet 31:97–106
Subrt I, Blehova B, Taborsky O (1971) Dicentric chromosome due to an unusual fusion. Hum Genet 12:136–141
Sumner AT (1972) A simple technique for demonstrating centromeric heterochromatin. Exp Cell Res 75:304–306
Therman E, Sarto GE, Patau K (1974) Apparently idodicentric but functionally monocentric X chromosome in man. Am J Hum Genet 26:83–92
Turleau C, Roubin M, Chavin-Colin F, de Grouchy J (1980) Trisomie 21 par duplication en miroir 46,XX, psu dic (21) ter rea (21q21q). Ann Genet (Paris) 23:187–189
Van Dyke DL, Weiss L, Logan M, Pai GS (1977) The origin and behavior of two isodicentric bisatellited chromosomes. Am J Hum Genet 29:294–300
Wang LY, Palmer CG (1974) A routine trypsin procedure for use in banding chromosomes and autoradiographs. Mammal Chrom Newsl 15:26
Ward BE, Bradley CM, Cooper JB, Robinson A (1981) Homodicentric chromosomes: A distinctive type of dicentric chromosome. J Med Genet 18:54–58
Wyandt HE, Wysham DG, Minden SK, Anderson RS, Hecht F (1976) Mechanisms of Giemsa banding of chromosomes. I. Giemsa-11 banding with azure and eosin. Exp Cell Res 102:85–94
Zuffardi O, Danesino C, Poloni L, Pavesi F, Bianchi C, Gargantini L (1980) Ring chromosome 12 and latent centromeres. Cytogenet Cell Genet 28:151–157
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Schwartz, S., Palmer, C.G., Weaver, D.D. et al. Dicentric chromosome 13 and centromere inactivation. Hum Genet 63, 332–337 (1983). https://doi.org/10.1007/BF00274757
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DOI: https://doi.org/10.1007/BF00274757