(Q34634879)

3 August 2017

title

A case of partial 14 trisomy 47,XY,(14q-)+ and translocation t(9p+;14q-) in mother and brother (English)

1 reference

human chromosomes 6-12 and X

3 August 2017

main subject

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A5079109

14 April 2023

human chromosomes 13-15

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A5079109

14 April 2023

chromosome abnormality

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A5079109

14 April 2023

trisomy

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A5079109

14 April 2023

1 reference

https://api.crossref.org/works/10.1136/JMG.9.3.367

14 April 2023

author name string

E. M. Short

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A5079109

14 April 2023

G. B. Solitare

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A5079109

14 April 2023

W. R. Breg

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A5079109

14 April 2023

language of work or name

English

0 references

publication date

1 September 1972

1 reference

full work available at URL

3 August 2017

https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/5079109/pdf/?tool=EBI

file format

Portable Document Format

online access status

open access

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A5079109

https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/5079109/?tool=EBI

14 April 2023

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A5079109

https://europepmc.org/articles/PMC1469148

14 April 2023

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A5079109

https://europepmc.org/articles/PMC1469148?pdf=render

14 April 2023

file format

Portable Document Format

online access status

open access

content deliverer

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A5079109

https://syndication.highwire.org/content/doi/10.1136/jmg.9.3.367

14 April 2023

1 reference

https://api.crossref.org/works/10.1136/JMG.9.3.367

https://jmg.bmj.com/content/9/3/367.full.pdf

14 April 2023

file format

Portable Document Format

online access status

open access

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A5079109

Journal of Medical Genetics

8 December 2023

published in

1 reference

3 August 2017

volume

9

1 reference

3 August 2017

issue

3

1 reference

3 August 2017

page(s)

367-373

1 reference

Multiple congenital anomaly caused by an extra autosome

3 August 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1469148

Autosomal trisomy syndromes: a detailed study of 27 cases of Edwards' syndrome and 27 cases of Patau's syndrome

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1469148

A rare translocation (47,XY,t(2p-;21q+),21+) associated with Down's syndrome

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1469148

Chromosomal variability in the D1 trisomy syndrome. Three cases and review of the literature

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1469148

Identification of translocation chromosomes by quinacrine fluorescence.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1469148

Quinacrine fluorescence for identifying metaphase chromosomes, with special reference to photomicrography

7 July 2018

1 reference

12 December 2020

Quinacrine Fluorescence Patterns of Human D Group Chromosomes

1 reference

12 December 2020

[Trisomy D2 in a 2 and one-half year old girl (47,XX,14+)]

1 reference

12 December 2020

Siblings with different types of chromosal aberrations due to D-E-translocation of the mother

1 reference

12 December 2020

Reciprocal translocations

1 reference

12 December 2020

TRANSLOCATION IN THE 13-15 GROUP AS A CAUSE OF PARTIAL TRISOMY AND SPONTANEOUS ABORTION IN THE SAME FAMILY

1 reference

12 December 2020

The 24 fluorescence patterns of the human metaphase chromosomes - distinguishing characters and variability

1 reference

12 December 2020

Familial translocation involving chromosome 6, 14 and 20, identified by quinacrine fluorescence

1 reference

12 December 2020

Autoradiographic Identification of the D (13–15) Chromosome Responsible for D1 Trisomic Patau's Syndrome

https://api.crossref.org/works/10.1136/JMG.9.3.367

15

1 reference

14 April 2023

Identifiers

0 references

1 reference

3 August 2017

1 reference