Literature DB >> 7076252

Ring chromosome 2: clinical, chromosomal, and biochemical aspects.

M Jansen, F A Beemer, C van der Heiden, J O Van Hemel, J L Van den Brande.   

Abstract

A new case of ring chromosome 2 is described and compared with the five cases hitherto reported. The clinical picture includes a severe pre- and postnatal growth failure, microcephaly, psychomotor retardation, and some minor dysmorphic features. Cytogenetic studies revealed a ring 2 structure and aneuploidy. Banding analysis failed to demonstrate a substantial loss of chromosomal material. Enzymologic studies revealed a decrease of red cell acid phosphatase activity suggesting the localization of its gene inthe 2p25 leads to 2 pter region.

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Year:  1982        PMID： 7076252     DOI： 10.1007/bf00281274

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


  16 in total

1.  GENETICAL STUDIES ON HUMAN RED CELL ACID PHOSPHATASE.

Authors:  D A HOPKINSON; N SPENCER; H HARRIS
Journal:  Am J Hum Genet       Date:  1964-03       Impact factor: 11.025

2.  Gene dosage: evidence for assignment of erythrocyte acid phosphatase locus to chromosome 2.

Authors:  R E Magenis; R D Koler; E Lovrien; R H Bigley; M C DuVal; K M Overton
Journal:  Proc Natl Acad Sci U S A       Date:  1975-11       Impact factor: 11.205

3.  High resolution of human chromosomes.

Authors:  J J Yunis
Journal:  Science       Date:  1976-03-26       Impact factor: 47.728

4.  [Regional localization of the genes for human IDHs, MDHs PGK, alphaGAL, G6PD by interspecific hybridization (author's transl)].

Authors:  D Weil; N Van-Cong; C Finaz; R Rebourcet; C Cochet; J de Grouchy; J Frézal
Journal:  Hum Genet       Date:  1977-04-15       Impact factor: 4.132

5.  Ring chromosome 4.

Authors:  A McDermott; M A Voyce; D Romain
Journal:  J Med Genet       Date:  1977-06       Impact factor: 6.318

6.  Regional assignment of red cell acid phosphatase locus to band 2p25.

Authors:  C Junien; J C Kaplan; A Bernheim; R Berger
Journal:  Hum Genet       Date:  1979-04-17       Impact factor: 4.132

Review 7.  Report of the committee on the genetic constitution of chromosomes 2, 3, 4, and 5.

Authors:  D Bootsma; P J McAlpine
Journal:  Cytogenet Cell Genet       Date:  1979

8.  [New system of chromosome banding: the T bands (author's transl)].

Authors:  B Dutrillaux
Journal:  Chromosoma       Date:  1973-04-27       Impact factor: 4.316

9.  CT banding of human chromosomes: description of the banding technique and some of its modifications.

Authors:  J M Scheres
Journal:  Hum Genet       Date:  1976-03-12       Impact factor: 4.132

10.  46,XX/46,XX,r (2)(p25q37) mosaicism: clinical and cytogenetic studies.

Authors:  G R Sutherland; R F Carter
Journal:  Ann Genet       Date:  1978-09
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  5 in total

1.  Probable assignment of soluble isocitrate dehydrogenase (IDH1) to 2q33.3.

Authors:  K Narahara; S Kimura; K Kikkawa; Y Takahashi; Y Wakita; R Kasai; S Nagai; Y Nishibayashi; H Kimoto
Journal:  Hum Genet       Date:  1985       Impact factor: 4.132

2.  Duplication of 2p25: confirmation of the assignment of soluble acid phosphatase (ACP1) locus to 2p25.

Authors:  Y Wakita; K Narahara; Y Takahashi; K Kikkawa; S Kimura; M Oda; H Kimoto
Journal:  Hum Genet       Date:  1985       Impact factor: 4.132

3.  Does "ring syndrome" exist? An analysis of 207 case reports on patients with a ring autosome.

Authors:  G Kosztolányi
Journal:  Hum Genet       Date:  1987-02       Impact factor: 4.132

Review 4.  Distribution of break points in human structural rearrangements.

Authors:  Y Nakagome; T Matsubara; H Fujita
Journal:  Am J Hum Genet       Date:  1983-03       Impact factor: 11.025

5.  Clinico-radiological and molecular characterization of a child with ring chromosome 2 presenting growth failure, microcephaly, kidney and brain malformations.

Authors:  Mariasavina Severino; Andrea Accogli; Giorgio Gimelli; Andrea Rossi; Svetlana Kotzeva; Maja Di Rocco; Patrizia Ronchetto; Cristina Cuoco; Elisa Tassano
Journal:  Mol Cytogenet       Date:  2015-03-05       Impact factor: 2.009
  5 in total

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