Literature DB >> 2479747

Abnormal chromosome complement resulting from a familial inversion of chromosome 2.

S Richter1, B Lockwood, D Lockwood, J Allanson.   

Abstract

It has been suggested that pericentric inversions of chromosome 2 increase the risk for spontaneous abortion but do not increase the risk for unbalanced recombinant offspring. We report our experience of a familial pericentric inversion of chromosome 2 resulting in two unbalanced recombinant offspring. Both subjects have 46,XX,rec(2),dup q,inv(2)(p25q35).

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Year:  1989        PMID: 2479747      PMCID: PMC1015743          DOI: 10.1136/jmg.26.11.725

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


  19 in total

1.  Inherited partial trisomy 2: 46,XX,1p+;t(1;2) (p36;q31).

Authors:  R J Warren; E G Panizales; R J Cantwell
Journal:  Birth Defects Orig Artic Ser       Date:  1975

2.  Familial t(X;2) (p223;q323) with partial trisomy 2q and male and female balanced carriers.

Authors:  C Turleau; F Chavin-Colin; J de Grouchy; G Repessé; P Beauvais
Journal:  Hum Genet       Date:  1977-06-10       Impact factor: 4.132

3.  [7 cases of trisomy 2q34 leads to 2qter resulting from a familial t(2;8)(q34;23)].

Authors:  C Laurent; M C Biemont; P Guibaud; J Guillot; B Noël; B Quack; M Geneviève; M L Cressens
Journal:  Ann Genet       Date:  1978-03

4.  Interstitial deletion of chromosome 2 (p23p25).

Authors:  V B Penchaszadeh; P K Dowling; J G Davis; R Schmidt; R A Wapnir
Journal:  Am J Med Genet       Date:  1987-07

5.  [Familial balanced translocation t(2; 13) (q32; q33) and partial trisomy 2q].

Authors:  A Forabosco; B Dutrillaux; G Toni; G Tamborino; G Cavazzuti
Journal:  Ann Genet       Date:  1973-12

6.  [Familial translocation 2-D].

Authors:  N Ricci; B Dallapiccola; G Cotti
Journal:  Ann Genet       Date:  1968-06

7.  Partial trisomy 2q and familial translocation t(2;18)(q31;p11).

Authors:  L Wisniewski; R Chan; J V Higgins
Journal:  Hum Genet       Date:  1978-12-18       Impact factor: 4.132

8.  Pericentric inversions inv(2)(p11q13) and inv(2)(p13q11) in 2 unrelated families.

Authors:  R B Phillips
Journal:  J Med Genet       Date:  1978-10       Impact factor: 6.318

9.  Distal 2q duplication: report of two familial cases and an attempt to define a syndrome.

Authors:  M Zankl; G Schwanitz; P Schmid; H Zankl; G Dockter; A Rodewald; K D Zang; K P Grosse
Journal:  Am J Med Genet       Date:  1979

10.  Duplication 2q33 leads to 2q37 due to paternal ins (12;2) translocation.

Authors:  N R Dennis; R L Neu; R M Bannerman
Journal:  Am J Med Genet       Date:  1978
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