Literature DB >> 830449

Translocation of 9q/13q resulting in duplication (trisomy 9pter leads to 9q22) and deficiency (monosomy 13pter leads to 13q12).

P N Howard-Peebles, K M Yarbrough, G R Stoddard, J M Rary.   

Abstract

A profoundly retarded, 12-year-old female is described. Her phenotype is compatible with the clinical features of the trisomy 9p syndrome. Cytogenetic analyses showed her to be trisomic for 9pter leads to 9q22 and monosomic for 13pter leads to 13q12, as the result of adjacent-2 segregation during meiosis in her mother. The family pedigree shows this (9;13) translocation to be present in at least three generations.

Entities:  

Mesh：

Year:  1977        PMID： 830449

Source DB:  PubMed          Journal:  Clin Genet        ISSN： 0009-9163            Impact factor:   4.438


  7 in total

Review 1.  Factors predisposing to adjacent 2 and 3:1 disjunctions: study of 161 human reciprocal translocations.

Authors:  P Jalbert; B Sele
Journal:  J Med Genet       Date:  1979-12       Impact factor: 6.318

Review 2.  Viability thresholds for partial trisomies and monosomies. A study of 1,159 viable unbalanced reciprocal translocations.

Authors:  O Cohen; C Cans; M A Mermet; J Demongeot; P Jalbert
Journal:  Hum Genet       Date:  1994-02       Impact factor: 4.132

3.  Retinoblastoma and partial deletion of the long arm of chromosome 13.

Authors:  R O Howard; D Warburton; W R Breg; O J Miller; J McKeown; S P Rubin
Journal:  Trans Am Ophthalmol Soc       Date:  1978

4.  Reciprocal translocations: a way to predict the mode of imbalanced segregation by pachytene-diagram drawing.

Authors:  P Jalbert; B Sele; H Jalbert
Journal:  Hum Genet       Date:  1980       Impact factor: 4.132

5.  Concordant congenital malformations in twins with inherited translocation: t(9p--;13q+).

Authors:  G S Sekhon; K Taysi
Journal:  Hum Genet       Date:  1979-09       Impact factor: 4.132

6.  Partial duplication of the short arm of chromosome 9 (p13 leads to p22) in a child with typical 9p trisomy phenotype.

Authors:  J P Fryns; P Casaer; H Van den Berghe
Journal:  Hum Genet       Date:  1979-01-25       Impact factor: 4.132

Review 7.  Adjacent 2 meiotic disjunction. report of a case resulting from a familial 13q;15q balanced reciprocal translocation and review of the literature.

Authors:  D P Duckett; S H Roberts
Journal:  Hum Genet       Date:  1981       Impact factor: 4.132
  7 in total

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