(Q34633070)

3 August 2017

title

An extra small metacentric chromosome in a mentally retarded boy (English)

1 reference

3 August 2017

main subject

human chromosomes 16-18

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A5713650

22 June 2023

chromosome abnormality

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A5713650

22 June 2023

trisomy

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A5713650

22 June 2023

1 reference

22 June 2023

author name string

J. Ishmael

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A5713650

22 June 2023

K. M. Laurence

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A5713650

22 June 2023

language of work or name

English

0 references

publication date

1 December 1968

1 reference

full work available at URL

3 August 2017

https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/5713650/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%3A5713650

https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/5713650/?tool=EBI

22 June 2023

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A5713650

https://europepmc.org/articles/PMC1468659

22 June 2023

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A5713650

https://europepmc.org/articles/PMC1468659?pdf=render

22 June 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%3A5713650

https://syndication.highwire.org/content/doi/10.1136/jmg.5.4.335

22 June 2023

1 reference

Journal of Medical Genetics

22 June 2023

published in

1 reference

3 August 2017

volume

5

1 reference

3 August 2017

issue

4

1 reference

3 August 2017

page(s)

335-340

1 reference

An extra small metacentric chromosome in a female child.

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=1468659

DIVERSE CHROMOSOMAL ANOMALIES IN TWO SIBLINGS.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1468659

17-18 TRISOMY SYNDROME; REVIEW AND REPORT OF A CASE.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1468659

The relationship between congenital anomalies and autosomal chromosome abnormalities

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1468659

Trisomy-17 syndrome. Report of 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=1468659

7 July 2018

A new trisomic syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1468659

Chromosome preparations of leukocytes cultured from human peripheral blood

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1468659

E (16-18) trisomy syndrome: analysis of 13 cases

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1468659

Trisomy 17-18. The clinical scope of a chromosomal aberration

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1468659

Pathologic variations of the 17-18 trisomy

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1468659

MENTAL RETARDATION AND MULTPLE CONGENITAL ANOMALIES: ASSOCIATION WITH EXTRA SMALL METACENTRIC CHROMOSOME.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1468659

MULTIPLE CONGENITAL ANOMALIES IN THE E1-TRISOMY (GROUP 16-18) SYNDROME

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1468659

The E syndrome (trisomy 17-18) resulting from a maternal chromosomal translocation.

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1468659

26 October 2018

PHOCOMELIA AND TRISOMY E

1 reference

12 December 2020

A Familial Centric Chromosome Fragment

1 reference

12 December 2020

CLINICAL TRISOMY E SYNDROME (16-18): A CYTOGENETIC ENIGMA

1 reference

12 December 2020

Multiple congenital anomaly associated with an extra autosome

1 reference

12 December 2020

THE TRISOMY 18 SYNDROME

1 reference

12 December 2020

TRISOMY 17-18(E): STUDIES IN LONG-TERM SURVIVAL WITH REPORT OF TWO AUTOPSIED CASES

1 reference

12 December 2020

The 18-trisomy syndrome-a spectrum?

1 reference

12 December 2020

A new autosomal trisomy syndrome: multiple congenital anomalies caused by an extra chromosome

1 reference

12 December 2020

The 16-18 trisomy syndrome

1 reference

12 December 2020

The sites and relative frequencies of secondary constrictions in human somatic chromosomes

1 reference

12 December 2020

The 18-trisomy syndrome

1 reference

12 December 2020

THE 17-18 TRISOMY AND 21 TRISOMY SYNDROMES IN SIBLINGS

1 reference

12 December 2020

A CASE OF TRISOMY 16-18 SYNDROME. SPECULATION ON PATHOGENESIS OF CHROMOSOME-INDUCED MALFORMATIONS

1 reference

12 December 2020

THE NO. 17-18 (E) TRISOMY SYNDROME. STUDIES ON CYTOGENETICS, DERMATOGLYPHICS, PATERNAL AGE, AND LINKAGE

1 reference

12 December 2020

TRISOMY 17-18--AN EVALUATION OF PRECONCEPTIONAL PARENTAL IRRADIATION AS A POSSIBLE ETIOLOGIC FACTOR

1 reference

12 December 2020

Trisomy of chromosomes 13-15 and 17-18: its association with infantile arteriosclerosis

1 reference

12 December 2020

On the subject of chromsome pathology. Anatomo-clinical and caryological contribution to the study of trisomy 17-18

1 reference

12 December 2020

1 reference

12 December 2020

AUTOSOMAL TRISOMY SYNDROMES, EXCLUDING DOWN'S

1 reference

12 December 2020

THE PATHOLOGY OF 18 TRISOMY

1 reference

12 December 2020

Trisomy 18 (16-18) associated with congenital glaucoma and optic atrophy

1 reference

12 December 2020

Observations on the pathology of the trisomy 17-18 syndrome

1 reference

12 December 2020

TRISOMY 18 IN A HYDROCEPHALIC FETUS

1 reference

12 December 2020

The 18-trisomy syndrome-two new clinical variants. One with associated tracheoesophageal fistula and the other with probable familial occurrence

1 reference

12 December 2020

Trisomy 18: study of 2 cases

1 reference

12 December 2020

Congenital Asymmetry Associated with Trisomy 18 Mosaicism

1 reference

12 December 2020

TRISOMY 18. REPORT OF A CASE AND DISCUSSION OF THE SYNDROME

1 reference

12 December 2020

TRISOMY 17-18. DESCRIPTION OF A CASE AND REVIEW OF THE LITERATURE

1 reference

12 December 2020

TRISOMY 18 SYNDROME WITH ABSENT RADIUS, VARUS DEFORMITY OF HAND, AND RUDIMENTARY THUMB: REPORT OF A CASE

1 reference

12 December 2020

THE TRISOMY-18 SYNDROME. REPORT ON 3 CASES

1 reference

12 December 2020

MULTIPLE ANOMALIES ASSOCIATED WITH AN EXTRA SMALL AUTOSOME

13

1 reference

An apparently identical extra autosome in two severely retarded sisters with multiple malformations.

22 June 2023

19

1 reference

22 June 2023

Identifiers

DOI

10.1136/JMG.5.4.335

1 reference

National Center for Biotechnology Information

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=5713650

22 June 2023

1 reference

3 August 2017

1 reference