Literature DB >> 6823976

Terminal deletion with stable acentric fragment of 1q in a child with congenital malformations.

M Kucerová, Z Polívková, S Dluholucký, M Kvasnicová.   

Abstract

The terminal deletion with stable acentric fragment of 1q was found in a girl with multiple congenital malformations and severe mental retardation. The karyotype of both parents was normal, and the aberration appears de novo. The medium did not influence the expression of the aberration.

Entities:  

Mesh：

Year:  1983        PMID： 6823976      PMCID： PMC1685492     

Source DB:  PubMed          Journal:  Am J Hum Genet        ISSN： 0002-9297            Impact factor:   11.025


  12 in total

1.  Fragile sites on human chromosomes: demonstration of their dependence on the type of tissue culture medium.

Authors:  G R Sutherland
Journal:  Science       Date:  1977-07-15       Impact factor: 47.728

2.  Partial trisomy 1q due to tandem duplication.

Authors:  S Flatz; C Fonatsch
Journal:  Clin Genet       Date:  1979-06       Impact factor: 4.438

3.  Partial trisomy 1q syndrome.

Authors:  H Rehder; U Friedrich
Journal:  Clin Genet       Date:  1979-06       Impact factor: 4.438

4.  A simple technique for demonstrating centromeric heterochromatin.

Authors:  A T Sumner
Journal:  Exp Cell Res       Date:  1972-11       Impact factor: 3.905

5.  A rapid banding technique for human chromosomes.

Authors:  M Seabright
Journal:  Lancet       Date:  1971-10-30       Impact factor: 79.321

6.  A marker X chromosome.

Authors:  H A Lubs
Journal:  Am J Hum Genet       Date:  1969-05       Impact factor: 11.025

7.  Persisting clone of cells with an abnormal chromosome in a woman previously irradiated.

Authors:  A Dekaban
Journal:  J Nucl Med       Date:  1965-10       Impact factor: 10.057

8.  Multibranched chromosomes 1, 9, and 16 in a patient with combined IgA and IgE deficiency.

Authors:  L Tiepolo; P Maraschio; G Gimelli; C Cuoco; G F Gargani; C Romano
Journal:  Hum Genet       Date:  1979-10-01       Impact factor: 4.132

9.  X-linked mental retardation with macro-orchidism and marker X chromosomes.

Authors:  P N Howard-Peebles; G R Stoddard
Journal:  Hum Genet       Date:  1979-09       Impact factor: 4.132

10.  Leukocytes cultured from small inocula of whole blood and the preparation of metaphase chromosomes by treatment with hypotonic KCl.

Authors:  D A Hungerford
Journal:  Stain Technol       Date:  1965-11
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  2 in total

Review 1.  Neocentromeres: new insights into centromere structure, disease development, and karyotype evolution.

Authors:  Owen J Marshall; Anderly C Chueh; Lee H Wong; K H Andy Choo
Journal:  Am J Hum Genet       Date:  2008-02       Impact factor: 11.025

2.  Familial fragile site found at the cancer breakpoint (1)(q32). Inducibility by distamycin A, concomitance with fragile (16)(q22).

Authors:  F Shabtai; J Hart; D Klar; I Halbrecht
Journal:  Hum Genet       Date:  1986-07       Impact factor: 4.132
  2 in total

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