Summary
A mentally retarded girl with several Turner symptoms had the chromosome constitution 46,X,tel(Xq). The abnormal X chromosome appeared to be completely telocentric and stable. It was late-replicating and formed a smaller than normal Barr body. The origin of telocentric chromosomes is discussed.
This is a preview of subscription content, log in via an institution to check access.
References
Atkins L, Feingold M (1969) 46,XY,21qi/46,XY,21p- mosaicism in a child with Down's syndrome. J Med Genet 6:206–208
Dallapiccola B, Mastroiavoco P, Gandini E (1976) Centric fission of chromosome No. 4 in the mother of two patients with trisomy 4p. Hum Genet 31:121–125
Darlington CD (1939) Misdivision and the genetics of the centromere. J Genet 37:341–364
Egozcue J (1971) A possible case of centric fission in a primate. Experientia 27:969–970
Fryns JP, Bulcke J, Hens L, Van den Berghe H (1980) Balanced transmission of centromeric fission products in man. Hum Genet 54: 127–128
Fryns JP, Casaer P, Van den Berghe H (1979) Mosaic 13 trisomy due to de novo 13/13 translocation with subsequent fission. Karyotype: 46,XX,-13,+t(13;13)(p11;q11)/46,XX,del(13)(p11). Hum Genet 46: 237–241
Guanti G, Maritato F (1978) Unstable telocentric chromosome produced after centric misdivision of a 21q/21q translocated element. Hum Genet 45:355–362
Halbrecht I, Shabtai F, Kupferstain C (1977) Primary amenorrhea with a new mosaic 46,XXqi/47,XXqi,Xp-. Acta Genet Med Gemellol (Roma) 26:63–69
Hansen S (1975) A case of centric fission in man. Hum Genet 26:257–259
Kato H, Sagai T, Yoshida TH (1973) Stable telocentric chromosomes produced by centric fission in Chinese hamster cells in vitro. Chromosoma 40:183–192
Kuhn EM, Therman E (1979) Chromosome breakage and rejoining of sister chromatids in Bloom's syndrome. Chromosoma 73:275–286
Niebuhr E, Skovby F (1977) Cytogenetic studies in seven individuals with an i(Xq) karyotype. Hereditas 86:121–128
Ris H, Witt PL (1979) Structure of mammalian kinetochore. Microtubule-chromatin relationship. J Cell Biol 83:371a
Sears ER (1952) Misdivision of univalents in common wheat. Chromosoma 4:535–550
Sinha AK, Pathak S, Nora JJ (1972) A human family suggesting evidence for centric fission and stability of a telocentric chromosome. Hum Hered 22:423–429
Southern DJ (1969) Stable telocentric chromosomes produced following centric misdivision in Myrmeleotettix maculatus (Thunb.). Chromosoma 26:140–147
Steinitz-Sears LM (1966) Somatic instability of telocentric chromosomes in wheat and the nature of the centromere. Genetics 54:241–248
Therman E, Patau K, DeMars RI, Smith DW, Inhorn SL (1963) Iso/telo-D1 mosaicism in a child with an incomplete D1 trisomy syndrome. Portugal Acta Biol A 7:211–224
Therman E, Sarto GE, Patau K (1974) Center for Barr body condensation on the proximal part of the human Xq: A hypothesis. Chromosoma 44:361–366
White MJD (1973) Animal cytology and evolution, 3rd edn. University Press, Cambridge
Author information
Authors and Affiliations
Rights and permissions
About this article
Cite this article
Therman, E., Sarto, G.E. & DeMars, R.I. The origin of telocentric chromosomes in man: A girl with tel(Xq). Hum Genet 57, 104–107 (1981). https://doi.org/10.1007/BF00271180
Received:
Issue Date:
DOI: https://doi.org/10.1007/BF00271180