Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Cryptic mosaicism for monosomy 20 identified in renal tract cells

12 Jul 2006

Abstract excerpt

We report a post-natal case of mosaic aneuploidy for chromosome 20 in a 4 months old male baby with an abnormal phenotype including dysmorphic features (asymmetric facial growth), ventricular septal defect, hypotonia and bilateral vesicoureteric reflux. Conventional cytogenetics on peripheral blood showed 1 cell of 200 with 47,XY,+20. Further investigations using fluorescent in situ hybridization (FISH) on a...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Chromosomal and Genetic Variations
Share to Genomic variations and chromosomal abnormalities
Share to Prenatal Screening and Diagnostics

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Source

Identifiers

PMID: 16922725
DOI: 10.1111/j.1399-0004.2006.00652.x

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Cryptic mosaicism for monosomy 20 identified in renal tract cellsPMID 16922725Read ↗

Monosomy 20 Mosaicism Revealed by Extensive Karyotyping in Blood and Skin Cells: Case Report and Review of the LiteratureSemantic proximity Read ↗

Additional studies warranted to confirm monosomy 21Semantic proximity Read ↗

A phenotypically normal liveborn male after prenatal diagnosis of trisomy 20 mosaicism.Semantic proximity Read ↗

Mosaic triple trisomy in amniocytes from a phenotypically and karyotypically normal fetus.Semantic proximity Read ↗

Rapid diagnosis of pseudomosaicism in a case of Level II mosaicism for trisomy 5 in a single colony from an in situ culture of amniocytes and a review of mosaic trisomy 5 at amniocentesisSemantic proximity Read ↗

Proposed guidelines for diagnosis of chromosome mosaicism in amniocytes based on data derived from chromosome mosaicism and pseudomosaicism studiesSemantic proximity Read ↗

Issues arising from the prenatal diagnosis of some rare trisomy mosaics—the importance of cryptic fetal mosaicismSemantic proximity Read ↗

Amniotic trisomy 11 mosaicism—is it a benign finding?Semantic proximity Read ↗

A revisit of trisomy 20 mosaicism in prenatal diagnosis--an overview of 103 cases.Semantic proximity Read ↗

Phenotypic variability in trisomy 13 mosaicism: two new patients and literature review.Semantic proximity Read ↗

Tandem duplication mosaicism: characterization of a mosaic dup(5q) and reviewSemantic proximity Read ↗

Triploidy mosaicism (45,X/68,XX) in an infant presenting with failure to thrive.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.