Evidence map›Paper›PMID 32468472›Full record

ArticleAdvances in experimental medicine and biology2020

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

Christos Yapijakis, Antonia Angelopoulou, Emmanuel Manolakos, Costas Voumvourakis

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Article in Advances in experimental medicine and biology, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

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1citing papers in PubMed
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1 · What the graph read from it

What it found

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2 · The registry

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3 · Its place in the literature

Who cites it

1 citing paper in PubMed.

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4 · The record

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5 · Who and what money

Authors and funding

4 authors.

Christos Yapijakis1st Department of Pediatrics, School of Medicine, National and Kapodistrian University of Athens, "Haghia Sophia" Hospital, Athens, Greece. cyapi@med.uoa.gr.
Antonia AngelopoulouDepartment of Molecular Genetics, Cephalogenetics Diagnostic Center, Athens, Greece.
Emmanuel ManolakosATG Genetic Center, Athens, Greece.
Costas Voumvourakis2nd Department of Neurology, School of Medicine, National and Kapodistrian University of Athens, Attikon Hospital, Athens, Greece.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

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.

Indexed as

Chromosome DeletionChromosome DisordersChromosome DuplicationChromosomes, Human, Pair 18Comparative Genomic HybridizationCraniofacial AbnormalitiesFemaleHumansKaryotypingMaleMiddle AgedPhenotypeSyndromeChromosome 18Cognitive disorderDeletionDuplicationShort stature

Identifiers

PMID32468472

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