Literature DB >> 641949

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

B Zabel, W Baumann, J Gehler, G Conrad.   

Abstract

We report 2 patients from different families with malformation-retardation syndromes caused by a partial trisomy of the long and of the short arm of chromosome 5, respectively (case 1: 46,XX,der(3),t(3;5)(p27;p13)mat; case 2: 46,XY,der(22),t(5;22)(q33;q13)pat). Several members of these families were balanced translocation carriers. Our cases are compared with those cited in the literature. The possibility of delineating a 5p- and a 5q-partial-trisomy syndrome is discussed.

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Year:  1978        PMID： 641949      PMCID： PMC1013664          DOI： 10.1136/jmg.15.2.143

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.  [FAMILIAL SEGREGATION OF A 5-13 TRANSLOCATION DETERMINING PARTIAL MONOSOMY AND A TRISOMY OF THE SHORT ARM OF THE 5 CHROMOSOME: "CAT CRY" DISEASE AND ITS "RECEPROCAL"].

Authors:  J LEJEUNE; J LAFOURCADE; R BERGER; R TURPIN
Journal:  C R Hebd Seances Acad Sci       Date:  1964-06-08

3.  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

4.  A partial trisomy 5p syndrome.

Authors:  J M Opitz; K Patau
Journal:  Birth Defects Orig Artic Ser       Date:  1975

5.  Banding in human chromosomes treated with trypsin.

Authors:  H C Wang; S Fedoroff
Journal:  Nat New Biol       Date:  1972-01-12

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.  Karyotype with chromosomal abnormality with various inherited defects in the offspring (recombination aneusomy).

Authors:  S Warter; J V Ruch; M Lehmann
Journal:  Humangenetik       Date:  1973-12-20

8.  [Segregation of a balanced translocation t(5p-;Gp+)].

Authors:  B Noel; B Quack; M Thiriet
Journal:  Ann Genet       Date:  1968-12

9.  Partial trisomy 5 with a carrier parent t(5p-;9p+).

Authors:  P Monteleone; J Monteleone; G Sekhon; W Hamilton; S L Volk; J Grzegocki; M Tietjens
Journal:  Clin Genet       Date:  1976-04       Impact factor: 4.438

10.  [Genetic and clinical study of a family of 7 children in which 3 persons have "crying cat syndrome"].

Authors:  C Laurent; J M Robert
Journal:  Ann Genet       Date:  1966-09
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  12 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.  Partial 5p monosomy or trisomy in 11 patients from a family with a t(5;15)(p13.3;p12) translocation.

Authors:  Acácia Fernandes Lacerda de Carvalho; Fernanda Teixeira da Silva Bellucco; Leslie Domenici Kulikowski; Maria Betânia Pereira Toralles; Maria Isabel Melaragno
Journal:  Hum Genet       Date:  2008-09-07       Impact factor: 4.132

3.  "Complete" trisomy 5p; de novo translocation t(2;5)(q36;p11) with isochromosome 5p. Case report and review of the literature.

Authors:  N J Leschot; K S Lim
Journal:  Hum Genet       Date:  1979-02-15       Impact factor: 4.132

Review 4.  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

5.  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

6.  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

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.  Reciprocal translocations: a way to predict the mode of imbalanced segregation by pachytene-diagram drawing.

Authors:  P Jalbert; B Sele; H Jalbert
Journal:  Hum Genet       Date:  1980       Impact factor: 4.132

10.  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
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