Literature DB >> 957383

Multiple congenital defects associated with trisomy for long arm of No. 4.

M Issa, A M Potter, C E Blank.   

Abstract

The clinical and cytogenetic findings of a male infant with multiple congenital anomalies and trisomy for the distal third of the long arm of No. 4 are described. The abnormal chromosome was inherited from the mother who had a balanced translocation, t(4;9)(q31;q34). Trisomy for the long arm of No. 4 has previously been described in only 3 patients.

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Year:  1976        PMID： 957383      PMCID： PMC1013426          DOI： 10.1136/jmg.13.4.326

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


  18 in total

1.  Familial C-G translocation causing mitotic nondisjunction. A cause of familial mosaic Down's syndrome.

Authors:  L Weiss; C B Wolf
Journal:  Am J Dis Child       Date:  1968-12

2.  [Reciprocal translocation between a chromosome number 21 (G1) and a chromosome of the group C(C6)].

Authors:  R A Pfeiffer; J Laermann; H L Heidtmann
Journal:  Helv Paediatr Acta       Date:  1967-12

3.  [Translocation t(2q-; 21q+) in three generations].

Authors:  C Laurent; J M Robert
Journal:  Ann Genet       Date:  1968-03

4.  Maternal transmission of a 21/1 translocation associated with Down's syndrome.

Authors:  S B Kontras; G J Currier; R F Cooper; J P Ambuel
Journal:  J Pediatr       Date:  1966-10       Impact factor: 4.406

5.  Translocation, t(4qminus;13qplus), in three generations resulting in partial trisomy of the long arm of chromosome 4 in the fourth generation.

Authors:  H G Schrott; S Sakaguchi; U Francke; L Luzzatti; P J Fialkow
Journal:  J Med Genet       Date:  1974-06       Impact factor: 6.318

6.  Segregating reciprocal (4;21) (q21;q21) translocation with proposita trisomic for parts of 4q and 21.

Authors:  A De la Chapelle; M Koivisto; J Schröder
Journal:  J Med Genet       Date:  1973-12       Impact factor: 6.318

7.  A rapid banding technique for human chromosomes.

Authors:  M Seabright
Journal:  Lancet       Date:  1971-10-30       Impact factor: 79.321

8.  [t(7q-; 21q-plus) and familial and trisomy 21].

Authors:  F Giraud; M Hartung; J F Mattei; M G Mattie
Journal:  Ann Genet       Date:  1974-03

9.  Familial translocation (3?--;G?- q+) and nondisjunction of chromosome in group G in two unrelated families.

Authors:  S W Soukup; E Passarge; D M Becroft; R L Shaw; L G Young
Journal:  Cytogenetics       Date:  1969

10.  [Analysis of a t translocation (18p+;21q-) by mild denaturation].

Authors:  M Prieur; B Dutrillaux; M O Rethoré; J Lejeune
Journal:  Ann Genet       Date:  1971-12
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  6 in total

1.  A case of Hirschsprung disease with a chromosome 13 microdeletion, del(13)(q32.3q33.2): potential mapping of one disease locus.

Authors:  A Bottani; Y G Xie; F Binkert; A Schinzel
Journal:  Hum Genet       Date:  1991-10       Impact factor: 4.132

2.  Partial trisomy 4q in two unrelated cases.

Authors:  M Andrle; A Erlach; A Rett
Journal:  Hum Genet       Date:  1979-06-19       Impact factor: 4.132

Review 3.  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

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.  De novo trisomy 4pter leads to q21.

Authors:  R Herva; L von Wendt
Journal:  Hum Genet       Date:  1978-03-17       Impact factor: 4.132

Review 6.  A Case of Inherited t(4;10)(q26;q26.2) Chromosomal Translocation Elucidated by Multiple Chromosomal and Molecular Analyses. Case Report and Review of the Literature.

Authors:  Roxana Popescu; Mihaela Grămescu; Lavinia Caba; Monica-Cristina Pânzaru; Lăcrămioara Butnariu; Elena Braha; Setalia Popa; Cristina Rusu; Georgeta Cardos; Monica Zeleniuc; Violeta Martiniuc; Cristina Gug; Luminiţa Păduraru; Maria Stamatin; Carmen C Diaconu; Eusebiu Vlad Gorduza
Journal:  Genes (Basel)       Date:  2021-12-07       Impact factor: 4.096
  6 in total

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