Literature DB >> 7450763

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

A Rodewald, M Zankl, E O Gley, K D Zang.   

Abstract

Mesh：

Year:  1980        PMID： 7450763     DOI： 10.1007/bf00291766

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


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  8 in total

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

Authors:  M Osztovics; P Kiss
Journal:  Clin Genet       Date:  1975-08       Impact factor: 4.438

2.  Partial trisomy for the long arms of chromosome no. 5 due to insertion and further 'aneusomie de recombinaison'.

Authors:  P Jalbert; H Jalbert; B Sele; C Mouriquand; J Malka; J Boucharlat; H Pison
Journal:  J Med Genet       Date:  1975-12       Impact factor: 6.318

3.  Partial duplication 5q syndrome: phenotypic similarity in two sisters with identical karyotype (partial duplication 5q33 leads to 5qter and partial deficiency 8p23 leads to pter).

Authors:  M Bartsch-Sandhoff; R Liersch
Journal:  Ann Genet       Date:  1977-12

4.  Partial trisomy for the distal long arm of chromosome 5 (region q34 leads to qter). A new clinically recognizable syndrome.

Authors:  C J Curry; W D Loughman; U Francke; B D Hall; M S Golbus; J Derstine; C J Epstein
Journal:  Clin Genet       Date:  1979-05       Impact factor: 4.438

5.  Analysis of the human karyotype using a reassociation technique.

Authors:  W Schnedl
Journal:  Chromosoma       Date:  1971       Impact factor: 4.316

6.  Assignment by deletion of human red cell acid phosphatase gene locus to the short arm of chromosome 2.

Authors:  M A Ferguson-Smith; B F Newman; P M Ellis; D M Thomson; I D Riley
Journal:  Nat New Biol       Date:  1973-06-27

7.  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

8.  Partial duplication of the long arm of chromosome 5: a case due to balanced paternal translocation and review of the literature.

Authors:  L A Jones; D K Jordan; K Taysi; A W Strauss; J K Toth
Journal:  Hum Genet       Date:  1979-09-02       Impact factor: 4.132
  8 in total
  9 in total

1.  A girl with partial trisomy 5q35-->qter and partial trisomy 13pter-->q31 derived via a maternal balanced translocation.

Authors:  Atsushi Uchiyama; Noriyuki Haneda; Kyoko Saito; Satomi Miyamoto; Yuichi Takusa; Rie Kanai; Masahiko Kimura; Hitoshi Sejima; Seiji Yamaguchi
Journal:  Eur J Pediatr       Date:  2002-04-16       Impact factor: 3.183

2.  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

3.  Simultaneous partial monosomy 10p and trisomy 5q in a case of hypoparathyroidism.

Authors:  M M Lai; P N Scriven; C Ball; A C Berry
Journal:  J Med Genet       Date:  1992-08       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

Review 5.  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

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.  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

8.  Prenatal diagnosis of a 5q35.3 microduplication involving part of the ADAMTS2 locus: a likely benign variant without apparent phenotypic abnormality: Case series.

Authors:  Fagui Yue; Yang Yu; Qi Xi; Hongguo Zhang; Yuting Jiang; Shibo Li; Ruizhi Liu; Ruixue Wang
Journal:  Medicine (Baltimore)       Date:  2019-12       Impact factor: 1.889

9.  Bilateral radial agenesis with absent thumbs, complex heart defect, short stature, and facial dysmorphism in a patient with pure distal microduplication of 5q35.2-5q35.3.

Authors:  Aleksander Jamsheer; Anna Sowińska; Dorota Simon; Małgorzata Jamsheer-Bratkowska; Tomasz Trzeciak; Anna Latos-Bieleńska
Journal:  BMC Med Genet       Date:  2013-01-24       Impact factor: 2.103
  9 in total

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