Summary
A translocation t(12;21)(q24.1;q21.5) is described in a woman with a history of recurrent spontaneous abortions. The break points of this translocation are compared with those of 30 other translocations described in the literature, and the following conclusions are drawn:
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1)
An excess of breaks occurs in the p arm of chromosome 12.
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2)
The distributions of breaks in the bands of chromosome 12 is significantly different from that expected on a random basis.
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3)
Translocations of chromosome 12 occur more often with chromosome 21 than any other chromosome, but these rearrangements do not involve a specific region of chromosome 12.
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4)
Most of the translocations were ascertained through their unbalanced meiotic products but seven translocations were “balanced”. Of these “balanced” translocations, three individuals were abnormal and two were recurrent aborters. The concept that phenothpic outcome may be related to the gross structural characteristics of the translocation site is not supported in this study.
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References
Alfi OS, Lange M (1976) Trisomy 12p. A clinically recognizable syndrome. Abstracts of 1976 Birth Defects Conference, Vancouver. Excerpta Medica, Amsterdam Oxford, p 189
Armendares S, Salamanca F, Nava S, Ramirez S, Cantu JM (1975) Le syndrome de la trisomie 12p. Ann Genet (Paris) 18:89–94
Aurias A, Prieur M, Dutrillaux B, Lejeune J (1978) Systemtic analysis of 95 reciprocal translocations of autosomes. Hum Genet 45:259–282
Biederman B, Bowen P, Robertson C, Schiff D (1977) Partial trisomy 12p due to t(12,21)pat translocation. Hum Genet 36:35–41
Bijlsma JB, France HF de, Bieeker-Wagemakers LM, Dijkstra PF (1978) Double translocation t(7;12),t(2;6) heterozygosity in one family. Hum Genet 40:135–145
Butomo IV, Mashkova MV (1978) Double autosomal aberration: trisomy 21 and familial reciprocal translocation t(10;12)(p14;q21). Tsitologiia 19:1291–1296
Carlin ME, Norman C (1978) Case report: Partial trisomy 12p associated with 4p deletion due to parental translocation t(12p-,4p+). Birth Defects 14 (6c):399–406
Donti E, Venti G, Bocchini V, Rosi G, Armellini R, Trabalza N (1979) The constitutional fragility of chromosome 12 in a case of 46,XX, Var(12) (qh, RHG, GAG, CBG). Hum Genet 48:53–59
Fryns JP, Van den Berghe H, Van Herck C, Cassiman JJ (1974) Trisomy 12p due to familial t(12p-,6q+) translocation. Hum Genet 24: 247–252
Hansteen IL, Schirmer L, Hestetun S (1978) Trisomy 12p syndrome. Clin Genet 13:339–349
Hemming L, Brown R (1979) Partial trisomy 12q associated with a familial translocation. Clin Genet 16:25–28
Holboth N, Jacobsen P, Mikkelsen M (1974) Partial trisomy 12 in a mentally retarded boy and translocation (12;21) in his mother. J Med Genet 11:299–303
Hoo JJ (1976) 12p trisomy: A syndrome? Ann Genet (Paris) 19:261–263
Jacobs PA, Buckton KE, Cunningham C, Newtown M (1974) An analysis of the breakpoints of structural rearrangements in man. J Med Genet 11:50–64
Korenberg JR, Therman E, Denniston C (1978) Hot spots and functional organization of human chromosomes. Hum Genet 43:13–22
Littlefield LG, Goh K-O (1973) Cytogenetic studies in control men and women. Cytogenet Cell Genet 12:17–34
Mikkelsen M (1974) Rare translocation of 47,XY,t(12;21) Down's syndrome. Hum Hered 24:160–166
Nielsen J, Vetner M, Holm V, Askjaer SA, Reske-Nieslen E (1977) A newborn child with karyotype 47,XX,+der(12)(12pter4! 12q12:: 8q24→8qter),t(8;12)(q24;q12)pat. Hum Genet 35:357–362
Pasquali F, Zuffardi O, Zamboni G, Bernardi F (1975) Translocation t(2;12)(p25;q21) classeé d'abord comme 2/X. Ann Genet (Paris) 18:64–66
Rethoré MO, Kaplan JC, Junien CL, Cruveiller J, Dutrillaux B, Aurias A, Carpentier S, Lafourcade J, Lejeune J (1975) Augmentation de l'activité de la LDH-B chez un garçon trisomique 12p par malségrégation d'une translocation maternelle t(12;14)(q12;p11). Ann Genet (Paris) 18:81–87
Savary JB, Cousin J, Lai J, Deminett (1977) Partial trisomy 12 and 8 with mosaicism associated with t(8;12)(p21;q13). Ann Genet (Paris) 20:122–127
Suerinck E, Suerinck A, Kaplan J-Cl, Meyer J, Junien C, Noël B, Rethoré MO (1978) Trisomy 12p caused by malsegregation of t(12;22)(p11;p11). Ann Genet (Paris) 21:243–246
Tenconi R, Baccichetti C, Angliani F, Pellegrino PA, Kaplan JC, Junien CL (1975) Partial deletion of short arm of chromosome 12(p11;p13). Ann Genet (Paris) 18:95–98
Tenconi R, Piovan E, Preto E, Magnabosco R, Baccichetti C (1977) Syndrome +12p. Hum Genet 39:97–101
Tenconi R, Giorgi PL, Tarantino E, Formica A (1978) Trisomy 12p due to adj. 1 segregation of maternal reciprocal translocation t(12;18)(p11;q23). Ann Genet (Paris) 21:243–246
Tharapel AT, Summitt RL (1977) A cytogenetic survey of 200 unclassifiable mentally retarded children with congenital anomalies and 200 normal controls. Hum Genet 37:329–338
Tocci P, Hitchcock C, Neadle M, Carlin M (1975) Trisomy 12: In a mentally retarded boy due to paternal t(12p-;4p+) translocation. Amer J Hum Genet 27:90A
Uchida IA, Lin CC (1973) Identification of partial 12 trisomy by quinacrine fluorescence. J Pediat 82:269–272
Yunis JJ, Ball DW, Sawyer JR (1979) G-banding patterns of high-resolution human chromosomes 6–22, X, and Y. Hum Genet 49: 291–306
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Ford, J.H., Rofe, R.H. & Pavy, R.P. Translocations involving chromosome 12. Hum Genet 58, 144–148 (1981). https://doi.org/10.1007/BF00278699
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DOI: https://doi.org/10.1007/BF00278699