Trisomy 4p and ocular defects (Q37306697)

19 August 2017

Trisomy 4p and ocular defects (English)

1 reference

19 August 2017

Lurie IW

1

1 reference

PMCID

504802

19 August 2017

Samochvalov VA

series ordinal

2

1 reference

PMCID

504802

19 August 2017

language of work or name

English

0 references

publication date

1 May 1994

1 reference

British Journal of Ophthalmology

19 August 2017

1 reference

19 August 2017

78

1 reference

19 August 2017

5

1 reference

19 August 2017

415-417

1 reference

Two cases of coloboma associated with unbalanced translocations

19 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=504802

Inherited pericentric inversion of chromosome no. 4.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=504802

Trisomy of the short arm of chromosome 4: the changing phenotype with age

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=504802

A complex four-break rearrangement between chromosomes 4 and 13 resulting in a recombinant chromosome 4

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=504802

Trisomy 4p due to recombination aneusomy of an inversion 4 (p 14, q 35)

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=504802

Dup(4p)del(9p) in a familial mental retardation syndrome. Resemblance to de Lange syndrome detected by high-resolution banding.

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=504802

Anophthalmia in a retarded girl with partial trisomy 4p and 22 following a maternal translocation, rcp(4;22)(p15.2;q11.2).

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=504802

Trisomy 4p: five new observations and overview

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=504802

Pericentric inversion of chromosome 4 giving rise to dup(4p) and dup(4q) recombinants within a single kindred.

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=504802

Characterization of a duplication in the terminal band of 4p by molecular cytogenetics.

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=504802

Trisomy 4p. Three new observations (author's transl)

2 September 2018

1 reference

12 December 2020

The phenotype of the trisomy of the short arm of chromosome no. 4. (a new case with t (4p; 11q) (author's transl)

1 reference

12 December 2020

De novo trisomy 4pter leads to q21

1 reference

12 December 2020

A further report on a kindred with cases of 4p trisomy and monosomy

1 reference

12 December 2020

[Clinical importance of chromosomal translocations (author's transl)]

1 reference

12 December 2020

Genetic and clinical studies in 13 patients with the Wolf-Hirschhorn syndrome [del(4p)]

1 reference

12 December 2020

[Multiple abnormalities as a result of partial trisomy 4p and partial monosomy 18q by meiotic recombination]

1 reference

12 December 2020

The critical monosomic segment involved in 4p- syndrome: a high-resolution banding study on five inherited cases

1 reference

12 December 2020

[Eye changes in partial trisomy 4p]

1 reference

12 December 2020

Ocular findings in a 4 p- deletion syndrome (Wolf-Hirschhorn)

1 reference

12 December 2020

Identifiers

DOI

10.1136/BJO.78.5.415

1 reference

19 August 2017

1 reference

19 August 2017

1 reference

PMCID

504802