(Q36984634)

English

Complex chromosome rearrangement in a child with microcephaly, dysmorphic facial features and mosaicism for a terminal deletion del(18)(q21.32-qter) investigated by FISH and array-CGH: Case report

scientific article published on 11 November 2008

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scholarly article

1 reference

Europe PubMed Central

PMC publication ID

17 August 2017

Complex chromosome rearrangement in a child with microcephaly, dysmorphic facial features and mosaicism for a terminal deletion del(18)(q21.32-qter) investigated by FISH and array-CGH: Case report (English)

1 reference

Europe PubMed Central

PMC publication ID

17 August 2017

0 references

author name string

Emmanouil Manolakos

1

1 reference

Europe PubMed Central

PMC publication ID

17 August 2017

Nadezda Kosyakova

2

1 reference

Europe PubMed Central

PMC publication ID

17 August 2017

Loreta Thomaidis

3

1 reference

Europe PubMed Central

PMC publication ID

17 August 2017

Rozita Neroutsou

4

1 reference

Europe PubMed Central

PMC publication ID

17 August 2017

Anja Weise

5

1 reference

Europe PubMed Central

PMC publication ID

17 August 2017

Markos Mihalatos

6

1 reference

Europe PubMed Central

PMC publication ID

17 August 2017

Sandro Orru

7

1 reference

Europe PubMed Central

PMC publication ID

17 August 2017

Haris Kokotas

8

1 reference

Europe PubMed Central

PMC publication ID

17 August 2017

George Kitsos

9

1 reference

Europe PubMed Central

PMC publication ID

17 August 2017

Thomas Liehr

10

1 reference

Europe PubMed Central

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17 August 2017

Michael B Petersen

11

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Europe PubMed Central

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17 August 2017

language of work or name

0 references

publication date

11 November 2008

1 reference

Europe PubMed Central

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17 August 2017

Molecular Cytogenetics

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Europe PubMed Central

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17 August 2017

1

1 reference

Europe PubMed Central

PMC publication ID

17 August 2017

1

0 references

24

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Europe PubMed Central

PMC publication ID

17 August 2017

describes a project that uses

fluorescence in situ hybridization

1 reference

based on heuristic

inferred from title

Cryptic deletions are a common finding in "balanced" reciprocal and complex chromosome rearrangements: a study of 59 patients.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2587471

29 September 2017

Mosaic isodicentric chromosome 18q: sixth report and review.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2587471

29 September 2017

Diagnostic genome profiling in mental retardation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2587471

29 September 2017

Implications of human genome architecture for rearrangement-based disorders: the genomic basis of disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2587471

29 September 2017

Multicolor chromosome banding (MCB) with YAC/BAC-based probes and region-specific microdissection DNA libraries

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2587471

29 September 2017

Three cell line mosaicism involving structural and numerical abnormalities of chromosome 18 in a 3.5-year-old girl: 47,XX,+18/47,XX,+del(18)(q22)/46,XX.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2587471

29 September 2017

Congenital anomalies and anthropometry of 42 individuals with deletions of chromosome 18q.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2587471

29 September 2017

The same molecular mechanism at the maternal meiosis I produces mono- and dicentric 8p duplications

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2587471

29 September 2017

The 18q- syndrome: analysis of chromosomes by bivariate flow karyotyping and the PCR reveals a successive set of deletion breakpoints within 18q21.2-q22.2.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2587471

29 September 2017

Aneusomie de recombinaison: three further examples

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2587471

29 September 2017

Molecular mechanism in the formation of a human ring chromosome 21.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2587471

29 September 2017

Partial monosomy and partial trisomy 18 in two offspring of carrier of pericentric inversion of chromosome 18

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2587471

29 September 2017

Cytogenetic investigation of a child with a mosaic isochromosome 18q and ring 18q.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2587471

27 June 2018

Origin and mechanisms of non-disjunction in human autosomal trisomies

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2587471

27 June 2018

Neuropsychiatry of 18q- syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2587471

27 June 2018

18q- and 18q+ mosaicism in a mentally retarded boy.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2587471

27 June 2018

Impact of low copy repeats on the generation of balanced and unbalanced chromosomal aberrations in mental retardation.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2587471

4 September 2018

Genotype–phenotype mapping of chromosome 18q deletions by high-resolution array CGH: An update of the phenotypic map

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2587471

4 December 2018

First non-mosaic case of isopseudodicentric chromosome 18 (psu idic(18)(pter → q22.1::q22.1 → pter) Is associated with multiple congenital anomalies reminiscent of trisomy 18 and 18q− syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2587471

4 December 2018

Non-disjunction of chromosome 18

1 reference

https://pubmed.ncbi.nlm.nih.gov/19014423

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Noonan-like phenotype in monozygotic twins with a duplication-deficiency of the long arm of chromosome 18 resulting from a maternal paracentric inversion

1 reference

https://pubmed.ncbi.nlm.nih.gov/19014423

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

46,XY del(18)(q21.3q22.2) with mosaicism of r(18) and a milder form of the 18q- syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/19014423

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Preferential loss of the paternal alleles in the 18q- syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/19014423

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Duplications in addition to terminal deletions are present in a proportion of ring chromosomes: clues to the mechanisms of formation

1 reference

https://pubmed.ncbi.nlm.nih.gov/19014423

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1186/1755-8166-1-24

1 reference

Europe PubMed Central

PMC publication ID

17 August 2017

Dimensions Publication ID

0 references

PMC publication ID

1 reference

Europe PubMed Central

PMC publication ID

17 August 2017

PubMed publication ID

1 reference

Europe PubMed Central

PMC publication ID

17 August 2017

ResearchGate publication ID

0 references

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