Literature DB >> 1175316

Familial translocation, t(2;5) (p23; g31).

M Osztovics, P Kiss.   

Abstract

A reciprocal translocation, t(2;5) (p23; q31) was found in healthy individuals through two generations of a family. The balanced aberration resulted in a derivate chromosome 2 in two malformed offspring in the third generation. The family was ascertained through the two unbalanced carriers whose phenotype abnormalities resembled those of two other offspring who died prior to the cytogenetic examination.

Entities:  

Mesh：

Year:  1975        PMID： 1175316

Source DB:  PubMed          Journal:  Clin Genet        ISSN： 0009-9163            Impact factor:   4.438


  13 in total

1.  Partial trisomy for 5q and monosomy for 12p in a liveborn child as a result of a complex five breakpoint chromosome rearrangement in a parent.

Authors:  C J Van Der Burgt; G F Merkx; A H Janssen; J C Mulder; R F Suijkerbuijk; D F Smeets
Journal:  J Med Genet       Date:  1992-10       Impact factor: 6.318

2.  Finding fusion genes resulting from chromosome rearrangement by analyzing the expressed sequence databases.

Authors:  Yoonsoo Hahn; Tapan Kumar Bera; Kristen Gehlhaus; Ilan R Kirsch; Ira H Pastan; Byungkook Lee
Journal:  Proc Natl Acad Sci U S A       Date:  2004-08-23       Impact factor: 11.205

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.  Clinical manifestations of trisomy 5q.

Authors:  D Kumar; P R Heath; C E Blank
Journal:  J Med Genet       Date:  1987-03       Impact factor: 6.318

5.  Tandem duplication (5q13 to 22) in a mentally deficient girl.

Authors:  E Kessel; R A Pfeiffer
Journal:  Hum Genet       Date:  1979-11       Impact factor: 4.132

Review 6.  The trisomy (5)(q31-qter) syndrome: study of a family with a t(5:14) translocation.

Authors:  A C Elias-Jones; P Habibi; V F Larcher; T Spencer; L J Butler
Journal:  Arch Dis Child       Date:  1988-04       Impact factor: 3.791

7.  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

8.  Partial trisomy 5q: three different phenotypes depending on different duplication segments.

Authors:  A Rodewald; M Zankl; E O Gley; K D Zang
Journal:  Hum Genet       Date:  1980       Impact factor: 4.132

9.  A case of partial 5q trisomy associated with partial 7q monosomy.

Authors:  S Hara; T Yamada; H Nakai; A Ohtani; K Mizuno
Journal:  Br J Ophthalmol       Date:  1986-08       Impact factor: 4.638

10.  Partial trisomy for short and long arm of chromosome no. 5: Two cases of two possible syndromes.

Authors:  B Zabel; W Baumann; J Gehler; G Conrad
Journal:  J Med Genet       Date:  1978-04       Impact factor: 6.318
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