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

Tetrasomy 21 pter→q21.3 due to an extra +dic(21;21)mat in a severely psychomotor-retarded female patient without Down syndrome phenotype.

European journal of medical genetics - 1 Apr 2020

Takano Takako, Nakabayashi Kazuhiko, Ota Hideomi, Arai Yasuhiro, Kamura Hiromi, Hata Kenichiro

Abstract excerpt

Complete or partial tetrasomy 21 has been reported only in rare cases. We report a Japanese female patient with tetrasomy 21 due to an extra chromosome derived from chromosome 21 (Chr21). The patient had severe psychomotor retardation without Down syndrome (DS) phenotype; she showed short stature, microcephaly, round face, cleft lip and palate, and other dysmorphic features. The chromosome analyses for the...

Read the complete abstract on PubMed

Topics

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

Share to Abnormalities, Multiple
Share to Chromosomes, Human, Pair 21

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

Share to Cleft Lip

Share to Cleft Palate

Share to Karyotype

Share to Karyotyping

Share to Microcephaly

Share to Whole Genome Sequencing

Source

Identifiers

PMID: 31830537
DOI: 10.1016/j.ejmg.2019.103824

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. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Tetrasomy 21 pter→q21.3 due to an extra +dic(21;21)mat in a severely psychomotor-retarded female patient without Down syndrome phenotype.PMID 31830537Read ↗

Long-read sequencing reveals the complex structure of extra dic(21;21) chromosome and its biological changesSemantic 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 ↗

Two cases of partial trisomy 21 (pter-q22.1) without the major features of Down syndrome.Semantic proximity Read ↗

A patient with Down syndrome with a de novo derivative chromosome 21.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 ↗

Tetrasomy 21 pter-->q22.1 and Down syndrome: molecular definition of the region.Semantic proximity Read ↗

Beyond Down syndrome phenotype: Paternally derived isodicentric chromosome 21 with partial monosomy 21q22.3.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 ↗

Familial transmission of a deletion of chromosome 21 derived from a translocation between chromosome 21 and an inverted chromosome 22.Semantic proximity Read ↗

Molecular cytogenetic characterization of an inherited maternal duplication 20p11.21p13 associated with a small 20p11.21 deletion.Semantic proximity Read ↗

Clinical, cytogenetic, and molecular genetic characterization of two unrelated patients with different duplications of 21q.Semantic proximity Read ↗

Nondisjunction in Trisomy 21: Origin and MechanismsSemantic proximity Read ↗

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