(Q33595378)

28 July 2017

title

Probable de novo 17q duplication (q11.2-->q21.1): a newly recognised chromosomal syndrome in a child with Klinefelter's syndrome (English)

1 reference

28 July 2017

main subject

Klinefelter's syndrome

1 reference

Butt AM

1

1 reference

28 July 2017

Mehta D

series ordinal

2

1 reference

28 July 2017

Goodeve JA

series ordinal

3

1 reference

28 July 2017

Flinter FA

series ordinal

4

1 reference

28 July 2017

language of work or name

English

0 references

publication date

1 May 1993

1 reference

Journal of Medical Genetics

28 July 2017

published in

1 reference

28 July 2017

volume

30

1 reference

28 July 2017

issue

5

1 reference

28 July 2017

page(s)

436-437

1 reference

Brief clinical report: duplication of distal 17q: report of an observation

28 July 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016388

A child with partial trisomy of chromosome 17 and partial monosomy of chromosome 3: 46,XY,der(3),t(3;17)(p25;q23)

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016388

Distal trisomy of chromosome 17q due to inverted tandem duplication

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016388

Partial duplication of 17 long arm.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016388

Partial trisomy 17q. Karyotype: 46,XY,der(21),t(17;21)(q22;p13).

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016388

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016388

Brief clinical report: an infant with duplication of 17q21 lead to 17qter.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016388

A new case of partial trisomy of 17 long arm. Densitometric analysis of aberrations.

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016388

Duplication (partial trisomy) of the distal long arm of chromosome 17: a new clinically recognizable chromosome disorder

30 October 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/8320713

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

De novo distal trisomy 17q

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/8320713

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Partial duplication of distal 17q

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/8320713

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1136/JMG.30.5.436

1 reference

28 July 2017

1 reference

28 July 2017

1 reference