Literature DB >> 6510913

Homozygosity for fragile site at 17p12 in a 28-year-old healthy man.

V Izakovic.   

Abstract

In a family two heterozygous children and a homozygous phenotypically normal father with a fragile site at 17p12 were discovered. This observation confirms the opinion that even homozygosity for this fragile site is phenotypically harmless.

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Year:  1984        PMID： 6510913     DOI： 10.1007/bf00292597

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


  6 in total

1.  A homozygous chromosomal variant.

Authors:  J M Berg; J A Faunch; M J Pendrey; L S Penrose; M A Ridler; A Shapiro
Journal:  Lancet       Date:  1969-03-08       Impact factor: 79.321

2.  A new familial "fragile site" on chromosome 16 (q23-24). Cytogenetic and clinical considerations.

Authors:  F Shabtai; D Klar; R Nissimov; D Vardimon; J Hart; I Halbrecht
Journal:  Hum Genet       Date:  1983       Impact factor: 4.132

3.  Fragile sites in chromosomes: possible model for the study of spontaneous chromosome breakage.

Authors:  P B Jacky; B Beek; G R Sutherland
Journal:  Science       Date:  1983-04-01       Impact factor: 47.728

4.  Demonstration of a heritable fragile site in human chromosome 16 with distamycin A.

Authors:  M Schmid; C Klett; A Niederhofer
Journal:  Cytogenet Cell Genet       Date:  1980

5.  Heritable fragile sites and lymphocyte culture medium containing BrdU.

Authors:  J M Scheres; T W Hustinx
Journal:  Am J Hum Genet       Date:  1980-07       Impact factor: 11.025

6.  Heritable fragile sites on human chromosomes. VII. Children homozygous for the BrdU-requiring fra(10)(q25) are phenotypically normal.

Authors:  G R Sutherland
Journal:  Am J Hum Genet       Date:  1981-11       Impact factor: 11.025
  6 in total
  4 in total

1.  Population cytogenetics of rare fragile sites in Japan.

Authors:  E Takahashi; T Hori; M Murata
Journal:  Hum Genet       Date:  1988-02       Impact factor: 4.132

2.  Population cytogenetics of folate-sensitive fragile sites. II. Autosomal rare fragile sites.

Authors:  M Kähkönen; C Tengström; T Alitalo; R Matilainen; M Kaski; E Airaksinen
Journal:  Hum Genet       Date:  1989-04       Impact factor: 4.132

3.  The fragile site (16) (q22). I. Induction by AT-specific DNA-ligands and population frequency.

Authors:  M Schmid; W Feichtinger; A Jessberger; J Köhler; R Lange
Journal:  Hum Genet       Date:  1986-09       Impact factor: 4.132

4.  The fragile site (17)(p12): induction by AT-specific DNA-ligands and population cytogenetics.

Authors:  M Schmid; W Feichtinger; C Deubelbeiss; E Weller
Journal:  Hum Genet       Date:  1987-10       Impact factor: 4.132
  4 in total

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