(Q33682603)

28 July 2017

title

Familial partial trisomy 8p without dysmorphic features and only mild mental retardation (English)

1 reference

28 July 2017

Engelen JJ

1

1 reference

28 July 2017

de Die-Smulders CE

2

1 reference

28 July 2017

Sijstermans JM

3

1 reference

28 July 2017

Meers LE

4

1 reference

28 July 2017

Albrechts JC

5

1 reference

28 July 2017

Hamers AJ

6

1 reference

28 July 2017

language of work or name

English

0 references

publication date

1 October 1995

1 reference

Journal of Medical Genetics

28 July 2017

published in

1 reference

28 July 2017

volume

32

1 reference

28 July 2017

issue

10

1 reference

28 July 2017

page(s)

792-795

1 reference

Inverted duplication of 8p: ten new patients and review of the literature

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=1051702

Partial trisomy and monosomy 8p due to inversion 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=1051702

D8S7 is consistently deleted in inverted duplications of the short arm of chromosome 8 (inv dup 8p).

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051702

Partial 8p trisomy due to interstitial duplication: karyotype: 46, XX, inv dup(8) (p21.1----p22).

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051702

Partial duplication 8p due to interstitial duplication: inv dup(8)(p21.1----p22). Further delineation of the phenotype from birth to adulthood.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051702

Delineation of individual human chromosomes in metaphase and interphase cells by in situ suppression hybridization using recombinant DNA libraries

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051702

Inverted tandem duplication generates a duplication deficiency of chromosome 8p.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051702

Normal phenotype and slight mental retardation in de novo distal 8p deletion (8pter----8p23.1:).

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051702

Partial monosomy 8p with minimal dysmorphic signs

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051702

Inverted tandem duplication of 8p12----p23.1 in a child with increased activity of glutathione reductase

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051702

Deficiency of distal 8p--report of two cases and review of the literature

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051702

Inv dup (8) (p21.1----22.1): further case report and a new hypothesis on the origin of the chromosome abnormality

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051702

Distal 8p deletion (8p23.1----8pter): a common deletion?

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051702

Molecular cytogenetic analysis of a familial 8p23.1 deletion associated with minimal dysmorphic features, seizures, and mild mental retardation

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051702

Characterization of an inversion duplication of the short arm of chromosome 8 by fluorescent in situ hybridization.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051702

Two cases of an abnormal short arm of chromosome 8 (8p+) associated with mental retardation

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051702

Inverted tandem (“mirror”) duplications in human chromosomes: Inv dup 8p, 4q, 22q

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051702

Chromosome 8 : complete trisomy and segmental trisomies

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051702

Direct transmission of a tandem duplication in the short arm of chromosome 8.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051702

U-type exchange in a paracentric inversion as a possible mechanism of origin of an inverted tandem duplication of chromosome 8

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051702

Protelomeric sequences are deleted in cases of short arm inverted duplication of chromosome 8

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051702

Duplication-deficiency of the short arm of chromosome 8 following artificial insemination

30 October 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/8558557

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Clinical, enzyme, and cytogenetic investigations in three new cases of trisomy 8p

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/8558557

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

High resolution R- and G-banding on the same preparation

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/8558557

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1136/JMG.32.10.792

1 reference

28 July 2017

1 reference

28 July 2017

1 reference