Literature DB >> 3573004

Clinical manifestations of trisomy 5q.

D Kumar, P R Heath, C E Blank.   

Abstract

A patient with a small deletion of the short arm and a partial duplication of the long arm of chromosome 5 is described. The main clinical features include craniofacial dysmorphism, growth failure, developmental retardation, and congenital heart defect. The mother and male sib each carried an inv(5) (p15.3q35) but were phenotypically normal. The possible clinical manifestations of partial duplication of the long arm of chromosome 5 are discussed with a review of previous published reports.

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Year:  1987        PMID： 3573004      PMCID： PMC1049956          DOI： 10.1136/jmg.24.3.180

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


  11 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.  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

5.  Duplication 5q(5q22----5q33): from an intrachromosomal insertion.

Authors:  N J Martin; D W Cartwright; P J Harvey
Journal:  Am J Med Genet       Date:  1985-01

6.  Fetal manifestation of a chromosomal disorder: partial duplication of the long arm of chromosome 5 (5q33 to qter).

Authors:  E Passarge; M Bartsch-Sandhoff; H Rehder
Journal:  Teratology       Date:  1982-04

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.  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

10.  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
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  1 in total

1.  A rare unbalanced translocation (trisomy 5q33.3-qter, monosomy 13q34-qter) results in growth hormone deficiency and brain anomalies.

Authors:  Alyssa C M Joynt; Ashish R Deshwar; Jessica Zon; Lucie Dupuis; Diane K Wherrett; Roberto Mendoza-Londono
Journal:  Mol Genet Genomic Med       Date:  2021-10-08       Impact factor: 2.183
  1 in total

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