Literature DB >> 7108920

Familial pericentric inversion of chromosome 13 resulting in duplication 13q22 to qter.

M Habedank.   

Abstract

Mesh：

Year:  1982        PMID： 7108920      PMCID： PMC1048873          DOI： 10.1136/jmg.19.3.227

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


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  7 in total

1.  Trisomy for the distal segment of chromosome 13: a new syndrome.

Authors:  J I Escobar; O Sanchez; J J Yunis
Journal:  Am J Dis Child       Date:  1974-08

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.  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

4.  Inherited pericentric inversion of a group D (13-15) chromosome.

Authors:  R B Surana; P E Conen
Journal:  J Med Genet       Date:  1972-03       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

6.  Partial trisomy 13q21toqter de novo due to a recombinant chromosome rec(13)dup q.

Authors:  M Habedank
Journal:  Hum Genet       Date:  1979-11-01       Impact factor: 4.132

7.  Partial trisomy 13 presumably due to recombination in an inversion heterozygote and by unequal crossing-over.

Authors:  T Koske-Westphal; R E Pruszak-Seel; R Niss; E Passarge
Journal:  Ann Hum Genet       Date:  1978-01       Impact factor: 1.670
  7 in total
  5 in total

1.  Phenotype-karyotype correlation in patients trisomic for various segments of chromosome 13.

Authors:  S A Tharapel; R C Lewandowski; A T Tharapel; R S Wilroy
Journal:  J Med Genet       Date:  1986-08       Impact factor: 6.318

2.  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

3.  Elucidation of the centromere involvement in an inversion (13) by fluorescent in situ hybridisation.

Authors:  P L Gordon; J D Dalton; P R Martens; A T Tharapel; R S Wilroy
Journal:  J Med Genet       Date:  1993-05       Impact factor: 6.318

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

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

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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