Literature DB >> 7205907

Pericentric inversion (13) with two different recombinants in the same family.

E M Williamson, J F Miller, M Seabright.   

Abstract

A family is described in which a pericentric inversion (13) was discovered in the father after the birth of an abnormal baby. In a further pregnancy amniocentesis was carried out. The fetal karyotype showed a rec(13)dup p,inv(13)(p11q22). The fetus's abnormalities were similar to those observed in the first child. Family studies showed that a first cousin, mentally retarded, had a rec(13)dup q,inv(13)(p11q22) karyotype. In this family, the risk of occurrence of a recombinant in offspring of an inversion carrier could be as high as 40%.

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Year:  1980        PMID： 7205907      PMCID： PMC1048576          DOI： 10.1136/jmg.17.4.309

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


  5 in total

1.  Familial pericentric inversion of chromosome 19, inv(19) (p13q13) with a note on genetic counseling of pericentric inversion carriers.

Authors:  G R Sutherland; A J Gardiner; R F Carter
Journal:  Clin Genet       Date:  1976-07       Impact factor: 4.438

2.  Duplication-deficiency product of a pericentric inversion in man: a cause of D 1 trisomy syndrome.

Authors:  K Taysi; M Bobrow; S Balci; K Madan; M Atasu; B Say
Journal:  J Pediatr       Date:  1973-02       Impact factor: 4.406

3.  Karyotype with chromosomal abnormality with various inherited defects in the offspring (recombination aneusomy).

Authors:  S Warter; J V Ruch; M Lehmann
Journal:  Humangenetik       Date:  1973-12-20

4.  Pericentric enversion of chromosome no. 13 in a large family leading to duplication deficiency causing congenital malformations in three individuals.

Authors:  H Hauksdóttir; S Halldórsson; O Jensson; M Mikkelsen; A McDermott
Journal:  J Med Genet       Date:  1972-12       Impact factor: 6.318

5.  Patau's syndrome with D 1 duplication-deficenncy derived from a maternal D group pericentric inversion.

Authors:  J M Parrington; J H Edwards
Journal:  Ann Hum Genet       Date:  1971-07       Impact factor: 1.670
  5 in total
  5 in total

1.  Genetic risk for recombinant 8 syndrome and the transmission rate of balanced inversion 8 in the Hispanic population of the southwestern United States.

Authors:  A C Smith; K Spuhler; T M Williams; T McConnell; E Sujansky; A Robinson
Journal:  Am J Hum Genet       Date:  1987-12       Impact factor: 11.025

2.  Familial pericentric inversion (13) detected by antenatal diagnosis.

Authors:  E L Maltby
Journal:  J Med Genet       Date:  1984-04       Impact factor: 6.318

3.  The phenotype in partial 13q trisomies, apropos of a familial (13;15)(q22;q26) translocation.

Authors:  F Rivas; H Rivera; M L Plascencia; B Ibarra; J M Cantú
Journal:  Hum Genet       Date:  1984       Impact factor: 4.132

Review 4.  Pericentric inversions. Problems and significance for clinical genetics.

Authors:  P Kaiser
Journal:  Hum Genet       Date:  1984       Impact factor: 4.132

5.  Identification of partial trisomy 13q in two unrelated patients using single-nucleotide polymorphism array and literature overview.

Authors:  Jianlong Zhuang; Chunnuan Chen; Hegan Zhang; Wanyu Fu; Yanqing Li; Yuying Jiang; Shuhong Zeng; Xiaoxia Wu; Yingjun Xie; Gaoxiong Wang
Journal:  Mol Cytogenet       Date:  2022-07-28       Impact factor: 1.904
  5 in total

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