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

Partial trisomy 6p from a de novo translocation (6;18) with variable mosaicism in different tissues.

Clinical genetics - 1 Aug 1997

Rudnik-Schöneborn S, Schubert R, Majewski F, Haverkamp F, Schwanitz G

Abstract excerpt

Partial trisomy 6p is regarded as a distinct phenotype with short stature, failure to thrive, facial dysmorphisms with blepharophimosis, mental retardation and other malformations. An 18-month-old girl with typical features of partial trisomy 6p showed a de novo unbalanced translocation resulting in partial trisomy 6p21 to pter and partial monosomy 18p11 to pter. The translocation was observed in all fibroblasts...

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 Chromosome Aberrations

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Chromosome Disorders

Share to Fibroblasts

Share to Infant

Share to Lymphocytes

Share to Phenotype

Source

Identifiers

PMID: 9298749
DOI: 10.1111/j.1399-0004.1997.tb02530.x

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

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

Partial trisomy 6p from a de novo translocation (6;18) with variable mosaicism in different tissues.PMID 9298749Read ↗

De-novo 'pure' partial trisomy (6)(p22.3→pter): a case report and review of the literature.Semantic proximity Read ↗

Familial trisomy 6p in mother and daughter.Semantic proximity Read ↗

A de novo complex karyotype with two independent balanced translocations and a double inversion of chromosome 6 presenting with multiple congenital anomalies.Semantic proximity Read ↗

A paternally transmitted complex chromosomal rearrangement (CCR) involving chromosomes 2, 6, and 18 includes eight breakpoints and five insertional translocations (ITs) through three generationsSemantic proximity Read ↗

Familial translocation t(6;20)(p21;p13) resulting in partial trisomy 6p and partial monosomy 20p: report of a new case and review of the literature.Semantic proximity Read ↗

Distal monosomy 16p13.3/distal trisomy 2p24.2-pter: molecular-cytogenetic characterisation and phenotype.Semantic proximity Read ↗

A 14-year follow-up of a case detected prenatally of partial trisomy 13q21.32-qter and monosomy 18q22.3-qter as a result of a maternal complex chromosome rearrangement involving chromosomes 6, 13, and 18.Semantic proximity Read ↗

Delineation of two distinct 6p deletion syndromes.Semantic proximity Read ↗

"Essentially pure" partial trisomy (6)(p23-->pter) in two brothers due to maternal t(6;17)(p23;p13.3).Semantic proximity Read ↗

De novo ring chromosome 6 in a child with multiple congenital anomalies.Semantic proximity Read ↗

The maternal uniparental disomy of chromosome 6 (upd(6)mat) "phenotype": result of placental trisomy 6 mosaicism?Semantic proximity Read ↗

Monosomy 18p.Semantic proximity Read ↗

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