Chromosome 18, Trisomy 18p

Last update 01 Nov 2024

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Synonyms

18号染色体，18p三体, Chromosome 18, trisomy 18p, Duplication 18p

+ [3]

Introduction

A rare partial trisomy of the short arm of chromosome 18 manifesting with a highly variable clinical phenotype which may include variable developmental delay and intellectual disability, epilepsy, and non-specific dysmorphic features, among others.

100 Clinical Results associated with Chromosome 18, Trisomy 18p

100 Translational Medicine associated with Chromosome 18, Trisomy 18p

0 Patents (Medical) associated with Chromosome 18, Trisomy 18p

Literatures (Medical) associated with Chromosome 18, Trisomy 18p

01 Dec 2022·Molecular Cytogenetics

Prenatal genetic diagnosis of tetrasomy 18p from maternal trisomy 18p: a case report

Article

Author: Peng, Can ; Hu, LanPing ; LinPeng, SiYuan ; Jiang, XuanYu ; Bu, Xiufen ; He, Jun ; Zhou, ShiHao

AbstractBackgroundTetrasomy 18p syndrome is a rare chromosomal disorder that is caused by the presence of isochromosome 18p. Most tetrasomy 18p cases are de novo cases and maternal origin of trisomy 18p is a rare condition. At present, only four cases of maternal origin have been reported in worldwide.This is the fifth case of tetrasomy 18p originating from maternal trisomy 18p. The mother of the fetus studied had no apparent disease phenotype.Case presentationThe current case report is to describe a fetus with confirmed 18p tetrasomy as detected by karyotyping and Single Nucleotide Polymorphism array (SNP array) analysis. However, the fetus showed normal phenotypic features that were observed using ultrasound scans. The mother and maternal grandfather were phenotypically normal and healthy; however, they were diagnosed with trisomy 18p, which was confirmed by conventional karyotyping and SNP array.ConclusionsWe report a case of 18p tetrasomy in a fetus whose mother and grandfather had 18p trisomy. The mother and grandfather were phenotypically normal. Our case report findings provide an important reference for the genetic counseling of trisomy 18p in the future.

10 Jul 2020·Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics

[Phenotypic and genetic analysis of a boy with a 10p15.3 deletion and partial trisomy 18p syndrome].

Article

Author: Song, Yinsen ; Mei, Shiyue ; Li, Dongxiao ; Zhang, Bo ; Kong, Jinghui

OBJECTIVETo delineate the nature and origin of chromosomal aberration in a girl with mental retardation.METHODSGenomic DNA was analyzed by using single nucleotide polymorphism-based array (SNP array). The proband and her parents were subjected to routine G-banded chromosomal karyotyping analysis.RESULTSSNP array has identified a 1.2 Mb microdeletion at 10p15.3 and a duplication at 18p11.21-pter in the proband. The patient was also found to harbor a structural aberration involving 10p. The karyotype of her father was 46,XY,t(10;18)(p15;p11.2), while her mother was found to be normal.CONCLUSIONThe structural aberration of 10p carried by the patient has derived from her father whom has carried a balanced translocation of t(10;18). Her karyotype was finally determined as 46,XX,der(10)t(10;18)(p15;p11.2)pat. The abnormal phenotype of the patient can probably be attributed to the presence of 10p15.3 microdeletion and 18p11.21-pter duplication.

01 Jan 2020·Advances in Experimental Medicine and BiologyQ4 · MEDICINE

Craniofacial and Neurological Phenotype in a Patient with De Novo 18q Microdeletion and 18p Microduplication

Q4 · MEDICINE

Article

Author: Manolakos, Emmanuel ; Angelopoulou, Antonia ; Voumvourakis, Costas ; Yapijakis, Christos

INTRODUCTIONChromosome 18q deletion syndrome (18q-) is a rare chromosomal disorder with phenotypic variability, including mental deficiency, short stature, hypotonia, cleft palate, and hearing impairment. We present a case with features of 18q- syndrome who had combined 18q partial monosomy and 18p partial trisomy.MATERIAL AND METHODSA 50-year-old female patient was examined during the genetic counseling of her brother. She had a history of congenital cleft palate and developmental deficiency with hypotonia, hearing loss, and epilepsy until adulthood. Her family history was free of related cases. Karyotype analysis and comparative genomic hybridization array (aCGH) were performed in patient's blood samples.RESULTSClinical examination showed features of 18q- syndrome including hypotonia and tremor. Neuropsychological deficiency of moderate cognitive disorder was noticed. The patient's karyotype was normal. The aCGH analysis revealed 8 Mb deletion (del18q22.3q23) and 7.2 Mb duplication (dup18p11.32p11.23).CONCLUSIONAlmost all patients' clinical features were associated with 18q- syndrome. There are very few reported cases with similar genotype possibly caused by a de novo unequal recombination mechanism.

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Chromosome 18, Trisomy 18p

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