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 3q duplication syndrome and assignment of D3S5 to 3q25-3q28.

Human genetics - 1 Jun 1991

van Essen A J, Kok K, van den Berg A, de Jong B, Stellink F, Bos A F, Scheffer H, Buys C H

Abstract excerpt

We report a girl with a de novo duplication of the distal part of the long arm of chromosome 3 and review the literature. Our patient had the facial characteristics and many other anomalies of the partial 3q duplication syndrome. As a hitherto undescribed symptom in partial 3q trisomy syndrome, she had microphthalmia. The karyotype of this girl was interpreted as an inverse duplication of the terminal portion of...

Topics

Blotting, Southern
Chromosome Inversion
Chromosomes, Human, Pair 3
Densitometry
Female
Genetic Markers
Humans
Infant, Newborn
Phenotype
Trisomy

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Identifiers

PMID: 2066102
DOI: 10.1007/BF00204171

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-2066102-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

Community interpretation

Discuss the evidence

Ask a question, add context or challenge an interpretation. Community activity is separate from scientific evidence strength.

0

discussions

0

replies

Citations encouraged

Claims remain attributable.

No discussion yet

Be the first to add a careful, cited interpretation.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Partial 3q duplication syndrome and assignment of D3S5 to 3q25-3q28.PMID 2066102Read ↗

A boy with partial trisomy of chromosome 3q24-q28 from paternal balanced insertion and multiple congenital anomalies.Semantic proximity Read ↗

A patient with a duplication of chromosome 3p (p24.1p26.2): a comparison with other partial 3p trisomies.Semantic proximity Read ↗

A girl with a 14.7 Mb 3q26.32-q28 duplication: a new report of 3q duplication syndrome and a literature review.Semantic proximity Read ↗

Loss of the 3p25.3 band is critical in the manifestation of del(3p) syndrome: karyotype-phenotype correlation in cases with deficiency of the distal portion of the short arm of chromosome 3.Semantic proximity Read ↗

Molecular characterization of a patient with 3p deletion syndrome and a review of the literature.Semantic proximity Read ↗

De novo interstitial deletion of the long arm of chromosome 3: 46,XX,del(3)(q25.1q26.1).Semantic proximity Read ↗

Partial distal trisomy 3p. A partial autosomal trisomy without major dysmorphic features.Semantic proximity Read ↗

Trisomy 3q25.1-qter and monosomy 8p23.1-pter in a patient: cytogenetic and molecular analysis with delineation of the phenotype.Semantic proximity Read ↗

3q29 Microdeletion: a mental retardation disorder unassociated with a recognizable phenotype in two mother-daughter pairs.Semantic proximity Read ↗

A severely mentally and motor retarded girl with monosomy 3pter-->p25 and trisomy 8q24-->qter due to a familial reciprocal translocation t(3;8)(p25;q24).Semantic proximity Read ↗

Clinical, cytogenetic and molecular study in a case of r(3) with 3p deletion and review of the literature.Semantic proximity Read ↗

First report of a partial trisomy 3q12-q23 de novo--FISH breakpoint determination and phenotypic characterization.Semantic proximity Read ↗

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