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Article

Partial deletion of 18p and partial duplication of 18q caused by a paternal pericentric inversion.

Clinical genetics - 1 Dec 1996

Israëls T, Hoovers J, Turpijn H M, Wijburg F A, Hennekam R C

Abstract excerpt

Here we report on a boy with both a partial deletion of chromosome 18p and a partial duplication of chromosome 18q, caused by a paternal pericentric inversion (46,XY,rec(18),dup q,inv(18)(p11.2q21.1)pat). The findings in the patient are compared to those in the literature. The symptoms in the des...

Topics

Abnormalities, Multiple
Chromosome Aberrations
Chromosome Deletion
Chromosome Disorders
Chromosome Inversion
Chromosomes, Human, Pair 18
Face
Heart Defects, Congenital
Humans
Infant, Newborn
Karyotyping
Larynx

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Male

Nasopharynx

Phenotype

Respiratory Sounds

Source

Identifiers

PMID: 9147887
DOI: 10.1111/j.1399-0004.1996.tb02726.x

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-9147887-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.

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Partial deletion of 18p and partial duplication of 18q caused by a paternal pericentric inversion.PMID 9147887Read ↗

Chromosome 18 replaced by two ring chromosomes of chromosome 18 origin.Semantic proximity Read ↗

Recombinant chromosome 18 resulting from a maternal pericentric inversionSemantic proximity Read ↗

Recurrent proximal 18p monosomy and 18q trisomy in a family due to a pericentric inversion.Semantic proximity Read ↗

Combined deletion 18q22.2 and duplication/triplication 18q22.1 causes microcephaly, mental retardation and leukencephalopathy.Semantic proximity Read ↗

Recurrent proximal 18p monosomy and 18q trisomy in a family with a maternal pericentric inversion of chromosome 18.Semantic proximity Read ↗

A Case of a Derivative Chromosome: der(Y)t(Y;18)Pat with Congenital Abnormalities.Semantic proximity Read ↗

Interstitial deletion of chromosome 18[del(18)(q11.2q12.2 or q12.2q21.1].Semantic proximity Read ↗

Novel isodicentric chromosome 18 in an abnormal infant with a mosaic karyotype [46,XY/46,XY,-18,+dic(18)(q12.2]).Semantic proximity Read ↗

Deletion of chromosome region 18q21.1 --> 18q21.3 in a patient without clinical features of the 18q- phenotype.Semantic proximity Read ↗

Tetrasomy 18p in a child with trisomy 18 phenotype.Semantic proximity Read ↗

A case of partial trisomy 20p resulting from meiotic recombination of a maternal pericentric inversion.Semantic proximity Read ↗

[Correlations between karyotype and phenotype in structural and numerical abnormalities of chromosome 18].Semantic proximity Read ↗

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