Literature DB >> 6500560

Pure monosomy and trisomy 2q24.2----q3105 due to an inv ins(7;2)(q21.2;q3105q24.2) segregating in four generations.

M Moller, D García-Cruz, H Rivera, J Sánchez-Corona, J M Cantú.   

Abstract

An inv ins(7;2)(q21.2;q3105q24.2) was found to segregate through four generations of a family. Adjacent-1 segregation aneusomies were ascertained in five patients: three monosomics and two trisomics; and the corresponding syndromes were delineated. The comparative analysis between these and other previously described 2q aneusomic individuals led to the conclusion that a large cleft between first and second toes is a constant feature in monosomy 2q24----q31. No other trait could plausibly be mapped. Risks of 7.9 to 31.6% for aneusomic children and of 26.3% for abortion were estimated in the present family.

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Year:  1984        PMID： 6500560     DOI： 10.1007/bf00293878

Source DB:  PubMed          Journal:  Hum Genet        ISSN： 0340-6717            Impact factor:   4.132


  42 in total

1.  "Cri du chat" syndrome with maternal insertional translocation.

Authors:  R Berger; G Touati; J Derre; M A Ortiz; J Martinetti
Journal:  Clin Genet       Date:  1974       Impact factor: 4.438

2.  [Trisomy for the distal part of the short arm of the number 3 chromosome in 3 siblings. First example of chromosomal insertion: INS(7;3)(q 31;p 21 p 26)].

Authors:  M O Rethoré; J Lejeune; S Carpentier; M Prieur; B Dutrillaux; P Seringe; A Rossier; J C Job
Journal:  Ann Genet       Date:  1972-09

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

4.  Familial, balanced insertional translocation of chromosome 7 leading to offspring with deletion and duplication of the inserted segment, 7p15 leads to 7p21.

Authors:  M Miller; G Kaufman; G Reed; R Bilenker; A Schinzel
Journal:  Am J Med Genet       Date:  1979

5.  Partial trisomy 2q.

Authors:  R E Schumacher; A P Rocchini; G N Wilson
Journal:  Clin Genet       Date:  1983-03       Impact factor: 4.438

6.  Partial proximal trisomy of the long arm of chromosome 5 (q13 leads to q22) resulting from maternal insertion der ins (10;5).

Authors:  S Gilgenkrantz; P Dulucq; J L Bresson; A Gouget; C Pernot; M J Gregoire
Journal:  J Med Genet       Date:  1981-12       Impact factor: 6.318

7.  Segregation of an insertional chromosome rearrangement in 3 generations.

Authors:  K E Toomey; T Mohandas; R S Sparkes; M M Kaback; D L Rimoin
Journal:  J Med Genet       Date:  1978-10       Impact factor: 6.318

8.  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

9.  An international system for human cytogenetic nomenclature--high-resolution banding (1981). ISCN (1981). Report of the Standing Committee on Human Cytogenetic Nomenclature.

Authors: 
Journal:  Cytogenet Cell Genet       Date:  1981

10.  Familial retinoblastoma and chromosome 13 deletion transmitted via an insertional translocation.

Authors:  L C Strong; V M Riccardi; R E Ferrell; R S Sparkes
Journal:  Science       Date:  1981-09-25       Impact factor: 47.728
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  1 in total

1.  Refinement of the Region for Split Hand/Foot Malformation 5 on 2q31.1.

Authors:  A Theisen; J A Rosenfeld; K Shane; K L McBride; J F Atkin; C Gaba; J Hoo; T W Kurczynski; R E Schnur; L B Coffey; E H Zackai; L Schimmenti; N Friedman; M Zabukovec; S Ball; R Pagon; A Lucas; C K Brasington; J E Spence; S Sparks; V Banks; W Smith; T Friedberg; P R Wyatt; M Aust; R Tervo; A Crowley; D Skidmore; A N Lamb; B Ravnan; T Sahoo; R Schultz; B S Torchia; M Sgro; D Chitayat; L G Shaffer
Journal:  Mol Syndromol       Date:  2011-05-18
  1 in total

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