(Q33680969)

English

Analysis of a familial three way translocation involving chromosomes 3q, 6q, and 15q by high resolution banding and fluorescent in situ hybridisation (FISH) shows two different unbalanced karyotypes in sibs

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scholarly article

1 reference

Europe PubMed Central

28 July 2017

Analysis of a familial three way translocation involving chromosomes 3q, 6q, and 15q by high resolution banding and fluorescent in situ hybridisation (FISH) shows two different unbalanced karyotypes in sibs (English)

1 reference

Europe PubMed Central

28 July 2017

0 references

author name string

Wieczorek D

1

1 reference

Europe PubMed Central

28 July 2017

Engels H

2

1 reference

Europe PubMed Central

28 July 2017

Viersbach R

3

1 reference

Europe PubMed Central

28 July 2017

Henke B

4

1 reference

Europe PubMed Central

28 July 2017

Schwanitz G

5

1 reference

Europe PubMed Central

28 July 2017

Passarge E

6

1 reference

Europe PubMed Central

28 July 2017

language of work or name

0 references

publication date

1 July 1998

1 reference

Europe PubMed Central

28 July 2017

Journal of Medical Genetics

1 reference

Europe PubMed Central

28 July 2017

35

1 reference

Europe PubMed Central

28 July 2017

7

1 reference

Europe PubMed Central

28 July 2017

545-553

1 reference

Europe PubMed Central

28 July 2017

Deletion of the long arm of chromosome 6: two new patients and literature review

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051364

21 June 2018

Molecular analysis of a complex chromosomal rearrangement and a review of familial cases

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051364

21 June 2018

The detection of subtelomeric chromosomal rearrangements in idiopathic mental retardation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051364

21 June 2018

Deletion of a portion of the long arm of chromosome 6.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051364

21 June 2018

A new R-banding technique in clinical cytogenetics

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051364

21 June 2018

Duplication 15q22�15qter and its phenotypic expression

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051364

21 June 2018

The dup(3q) syndrome: report of eight cases and review of the literature

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051364

21 June 2018

Complex chromosomal rearrangements (CCR) and their genetic consequences.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051364

21 June 2018

Distal 15q trisomy: phenotypic comparison of nine cases in an extended family

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051364

21 June 2018

Inherited partial duplication of chromosome No. 15.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051364

21 June 2018

Duplication of distal 15q: report of five new cases from two different translocation kindreds

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051364

21 June 2018

De novo del(6)(q25) associated with macular degeneration.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051364

21 June 2018

Familial t(8;15)(p23.3;q22.3): report of two cases with dup(15) (q22.3----qter).

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051364

21 June 2018

Report of two cases of distal deletion of the long arm of chromosome 6

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051364

21 June 2018

Reproductive risks for carriers of complex chromosome rearrangements: analysis of 25 families.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051364

21 June 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051364

21 June 2018

Fluorescence in situ hybridization with human chromosome-specific libraries: detection of trisomy 21 and translocations of chromosome 4.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051364

21 June 2018

Unbalanced form of translocation deletion between chromosomes 6 and 22 in a mentally handicapped female [45,XX,-6,-22,+der(6),t(6;22)(q25.1:q11.2)]

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051364

21 June 2018

Chromosome 6q deletions: a report of two additional cases and a review of the literature

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051364

21 June 2018

Terminal deletion of 6q and Fryns syndrome: a microdeletion/syndrome pair?

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051364

21 June 2018

Distal monosomy of the long arm of chromosome 6 (6q25----6qter) inherited by maternal translocation t(6q;17q)

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051364

21 June 2018

Specification of small distal 6q deletions in two patients by gene dosage and in situ hybridization study of plasminogen and alpha-L-fucosidase 2

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051364

21 June 2018

Construction and characterization of plasmid libraries enriched in sequences from single human chromosomes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051364

21 June 2018

Two patients with chromosome 6q terminal deletions with breakpoints at q24.3 and q25.3.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051364

21 June 2018

A complex chromosome rearrangement with 10 breakpoints: tentative assignment of the locus for Williams syndrome to 4q33----q35.1

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051364

21 June 2018

Monosomy 6q: report on four new cases

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051364

21 June 2018

Analysis of reciprocal translocations by chromosome painting: applications and limitations of the technique

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051364

21 June 2018

Long arm deletion of chromosome no. 6 in a mentally retarded boy with multiple physical malformations

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051364

21 June 2018

Inherited parital duplication deficiency of chromosome 15 (p12;q22)

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051364

21 June 2018

A case of leprechaunism with chromosome abnormality (46, XX, der(21), t(3;21)(q26 or 27;q22)pat).

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051364

21 June 2018

Chromosome 3 duplication q/deletion p syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051364

21 June 2018

Developmental abnormalities associated with long arm deletion of chromosome No. 6

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051364

21 June 2018

Chromosome 6q- and associated malformations

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051364

21 June 2018

Enhancement of banding patterns in human metaphase chromosomes by energy transfer

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051364

21 June 2018

Stillbirth: the outstanding problem of haemolytic disease of the newborn.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051364

30 October 2018

Craniosynostosis associated with partial duplication of 15q and deletion of 2q

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051364

30 October 2018

A complex chromosomal rearrangement detected prenatally and studied by fluorescence in situ hybridization

1 reference

https://pubmed.ncbi.nlm.nih.gov/9678698

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

[Human familial autosomal reciprocal translocations]

1 reference

https://pubmed.ncbi.nlm.nih.gov/9678698

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A rapid banding technique for human chromosomes

1 reference

https://pubmed.ncbi.nlm.nih.gov/9678698

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Use of fluorescence in situ hybridization to confirm the interpretation of a balanced complex chromosome rearrangement ascertained through prenatal diagnosis

1 reference

https://pubmed.ncbi.nlm.nih.gov/9678698

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Partial trisomy 15(q25qter) in two brothers

1 reference

https://pubmed.ncbi.nlm.nih.gov/9678698

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mosaic and non-mosaic trisomy 15q2

1 reference

https://pubmed.ncbi.nlm.nih.gov/9678698

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Distal 15q trisomy with Dandy-Walker malformation in a female infant

1 reference

https://pubmed.ncbi.nlm.nih.gov/9678698

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Distal deletion of the long arm of chromosome 6: a specific phenotype?

1 reference

https://pubmed.ncbi.nlm.nih.gov/9678698

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Complex chromosome rearrangements and congenital anomalies

1 reference

https://pubmed.ncbi.nlm.nih.gov/9678698

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

[Partial trisomy 3q. Contribution of a new case to the literature]

1 reference

https://pubmed.ncbi.nlm.nih.gov/9678698

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1136/JMG.35.7.545

1 reference

Europe PubMed Central

28 July 2017

1 reference

Europe PubMed Central

28 July 2017

1 reference

Europe PubMed Central

28 July 2017

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