Literature DB >> 457134

The constitutional fragility of chromosome 12 in a case of 46,XX,var(12)(gh',RHG,CAG,CBG).

E Donti, G Venti, V Bocchini, G Rosi, R Armellini, N Trabalza.   

Abstract

The constitutional fragility of chromosome no. 12 in a female infant with unspecific clinical signs is described. RHG, GAG, and CBG methods were used to localize the fragile point. The breaks seem to be in 12q1.3, and always within an R band. A possible correlation between the phenotypic modifications and the chromosome variant is discussed.

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Year:  1979        PMID： 457134     DOI： 10.1007/bf00273274

Source DB:  PubMed          Journal:  Hum Genet        ISSN： 0340-6717            Impact factor:   4.132


  30 in total

1.  Nonrandom distribution of chromosome breaks in cultured lymphocytes of normal subjects.

Authors:  S Aymé; J F Mattei; M G Mattei; Y Aurran; F Giraud
Journal:  Hum Genet       Date:  1976-02-29       Impact factor: 4.132

2.  Distribution of spontaneous chromosome breaks in human chromosomes.

Authors:  P Aula; H von Koskull
Journal:  Hum Genet       Date:  1976-05-19       Impact factor: 4.132

3.  Structural variation in human nitotic chromosomes.

Authors:  J Leisti
Journal:  Ann Acad Sci Fenn Biol       Date:  1971

4.  Specific instability of the paracentric region of chromosome number 9 in a normal woman and her mongoloid son.

Authors:  M Fraccaro; K Hansson; J Lindsten; L Tiepolo
Journal:  Ann Genet       Date:  1971-06

5.  High resolution studies on the pattern of induced exchanges in the human karyotype.

Authors:  M Seabright
Journal:  Chromosoma       Date:  1973       Impact factor: 4.316

6.  Preferential location of x-ray induced chromosome breakage in the R-bands of human chromosomes.

Authors:  M Holmberg; J Jonasson
Journal:  Hereditas       Date:  1973       Impact factor: 3.271

7.  Radiation-induced non-random chromosome breakage.

Authors:  T Caspersson; U Haglund; B Lindell; L Zech
Journal:  Exp Cell Res       Date:  1972-12       Impact factor: 3.905

8.  [Selective endoreduplication of the long arm of the 2 chromosome in a woman and her daughter].

Authors:  J Lejeune; B Dutrillaux; J Lafourcade; R Berger; D Abonyi; M O Rethoré
Journal:  C R Acad Hebd Seances Acad Sci D       Date:  1968-01-03

9.  [A specific aberration of a C group chromosome in several members of a family].

Authors:  E Kunze-Mühl; P Fischer; E Golob
Journal:  Humangenetik       Date:  1970

10.  Chromosome abnormality and hypocalcemia in congenital erythroid hypoplasia. (Blackfan-Diamond syndrome).

Authors:  A P Tartaglia; S Propp; A P Amarose; R P Propp; C A Hall
Journal:  Am J Med       Date:  1966-12       Impact factor: 4.965
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  7 in total

1.  A BrdU-requiring fragile site on chromosome 12.

Authors:  I Voiculescu; C Hausmann; G Wolff; E Back
Journal:  Hum Genet       Date:  1988-02       Impact factor: 4.132

2.  Studies on three rare fragile sites. 2q13, 12q13, and 17p12 segregating in one family.

Authors:  D R Romain; L M Columbano-Green; R H Smythe; R G Parfitt; O B Gebbie; C J Chapman
Journal:  Hum Genet       Date:  1986-06       Impact factor: 4.132

3.  Heritable fragile sites on human chromosomes. VI. Characterization of the fragile site at 12q13.

Authors:  G R Sutherland; L Hinton
Journal:  Hum Genet       Date:  1981       Impact factor: 4.132

4.  Fragile site at 12q13 associated with phenotypic abnormalities.

Authors:  S Morić-Petrović; Z Laca
Journal:  J Med Genet       Date:  1984-06       Impact factor: 6.318

5.  Translocations involving chromosome 12. I. A report of a 12,21 translocation in a woman with recurrent abortions, and a study of the breakpoints and modes of ascertainment of translocations involving chromosome 12.

Authors:  J H Ford; R H Rofe; R P Pavy
Journal:  Hum Genet       Date:  1981       Impact factor: 4.132

6.  Origin of symmetrical triradial chromosomes in human cells.

Authors:  E M Kuhn; E Therman
Journal:  Chromosoma       Date:  1982       Impact factor: 4.316

7.  CGG-repeat expansion in the DIP2B gene is associated with the fragile site FRA12A on chromosome 12q13.1.

Authors:  Birgitta Winnepenninckx; Kim Debacker; Jacqueline Ramsay; Dominique Smeets; Arie Smits; David R FitzPatrick; R Frank Kooy
Journal:  Am J Hum Genet       Date:  2006-12-12       Impact factor: 11.025
  7 in total

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