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

The first post-natal clinical description of true mosaic complete tetrasomy 21: A case report.

American journal of medical genetics. Part A - 1 Nov 2021

Johnson Desalyn Louise, Abdala Villa Caterina, Lustig Matthew C, Robin Nathaniel H

Abstract excerpt

Tetrasomy 21 is a rare occurrence. Only 14 cases have been reported in the literature, 8 of which are partial tetrasomy cases and 6 which are complete tetrasomy cases. Of the incidences, no proband with true complete tetrasomy 21 has survived the neonatal period. We report complete mosaic tetrasomy 21 in a female infant with the typical Down syndrome phenotype, including Hirschsprung's disease and...

Read the complete abstract on PubMed

Topics

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

Share to Aneuploidy
Share to Chromosome Disorders
Share to Developmental Disabilities

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Down Syndrome

Share to Heart Septal Defects

Share to Hirschsprung Disease

Share to Microcephaly

Share to Mosaicism

Source

Identifiers

PMID: 34472202
DOI: 10.1002/ajmg.a.62471

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

The first post-natal clinical description of true mosaic complete tetrasomy 21: A case report.PMID 34472202Read ↗

Mosaicism for trisomy 21: a review.Semantic proximity Read ↗

Atypical Down syndrome phenotype with severe developmental delay, hypertonia, and seizures in a child with translocation trisomy 21.Semantic proximity Read ↗

The 50th anniversary of the discovery of trisomy 21: the past, present, and future of research and treatment of Down syndrome.Semantic proximity Read ↗

A case of apparent trisomy 21 without the Down's syndrome phenotype.Semantic proximity Read ↗

Tetrasomy 21pter-->q21.2 in a male infant without typical Down's syndrome dysmorphic features but moderate mental retardation.Semantic proximity Read ↗

Cytogenetic and epidemiological findings in Down syndrome: England and Wales 1989–2009Semantic proximity Read ↗

Partial trisomy and tetrasomy of chromosome 21 without Down Syndrome phenotype and short overview of genotype-phenotype correlation. A case report.Semantic proximity Read ↗

Partial trisomy of chromosome 21 without the Down syndrome phenotype.Semantic proximity Read ↗

Double Trisomy 48,XXY,+21 in a Neonate with Congenital Heart Disease.Semantic proximity Read ↗

De novo mosaic and partial monosomy of chromosome 21 in a case with superior vena cava duplicationSemantic proximity Read ↗

A rare case of mosaic monosomy 21 in a Moroccan patient: clinical findings and insights from a systematic review.Semantic proximity Read ↗

Clinical, cytogenetic, and molecular characterization of a girl with some clinical features of Down syndrome resulting from a pure partial trisomy 21q22.11-qter due to a de novo intrachromosomal duplication.Semantic proximity Read ↗

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