Literature DB >> 511177

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

E Kessel, R A Pfeiffer.   

Abstract

A tandem duplication of 5q13 to 5q22, visualized using GTG- and RBA-banding, was found in a mentally defective girl with craniofacial dysmorphy.

Entities:  

Mesh：

Year:  1979        PMID： 511177     DOI： 10.1007/bf00271576

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


  13 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 4q trisomy. Apropos of 3 cases.

Authors:  B Dutrillaux; C Laurent; A Forabosco; B Noel; E Suerinc; M C Biemont; J B Cotton
Journal:  Ann Genet       Date:  1975-03

4.  Partial trisomy of the long arm of human chromosome 1 as demostrated by in situ hybridization with 5S ribosomal RNA.

Authors:  D M Steffensen; E H Chu; D P Speert; P M Wall; K Meilinger; R P Kelch
Journal:  Hum Genet       Date:  1977-04-07       Impact factor: 4.132

5.  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

6.  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

7.  Chromatid interchange resulting in duplication of the short arm of chromosome number 7 in man.

Authors:  T Caspersson; M Hultén; J Lindsten; L Zech
Journal:  Ann Genet       Date:  1971-06

8.  [Trisomy 13qter by tandem duplication 46, XX, dir dup 13 (q21 qter), 9qh+].

Authors:  J de Grouchy; C Turleau; F Danis; G Kohout; M L Briard
Journal:  Ann Genet       Date:  1978-12

9.  Serial duplication of 10 (q11 leads to q22) in a patient with minor congenital malformations.

Authors:  W Vogel; E Back; W Imm
Journal:  Clin Genet       Date:  1978-02       Impact factor: 4.438

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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  3 in total

Review 1.  Paternal duplication of chromosome 5q11.2-5q14 in a male born with craniostenosis, ear tags, kidney dysplasia and several other anomalies.

Authors:  E J Breslau-Siderius; J T Wijnen; J G Dauwerse; J M de Pater; F A Beemer; P M Khan
Journal:  Hum Genet       Date:  1993-11       Impact factor: 4.132

2.  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

3.  Serial duplication of 10 (q21 to q22) in a mentally retarded boy with congenital malformations.

Authors:  M Koivisto; R Herva; S L Linna
Journal:  Hum Genet       Date:  1981       Impact factor: 4.132
  3 in total

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