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

Molecular cytogenetic analysis of de novo dup(5)(q35.2q35.3) and review of the literature of pure partial trisomy 5q.

American journal of medical genetics. Part A - 15 Jul 2006

Chen Chih-Ping, Lin Shuan-Pei, Lin Chyi-Chyang, Chen Yann-Jang, Chern Schu-Rern, Li Yueh-Chun, Hsieh Lie-Jiau, Lee Chen-Chi, Pan Chen-Wen, Wang Wayseen

Abstract excerpt

An 11-year-old girl presented with the phenotype of microcephaly, moderate mental retardation, motor retardation, short stature, strabismus, brachydactyly, and facial dysmorphism. She had undergone surgery for inguinal hernias. Detailed examinations of the heart and other internal organs revealed normal findings. Her karyotype was 46,XX,dup(5)(q35.2q35.3) de novo. Molecular cytogenetic analysis showed a...

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 Aneuploidy

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

Share to Chromosome Banding

Share to Chromosomes, Human, Pair 5

Share to Gene Dosage

Share to Growth Disorders

Share to Intellectual Disability

Share to Microcephaly

Source

Identifiers

PMID: 16770806
DOI: 10.1002/ajmg.a.31329

Genes

NSD1

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

Molecular cytogenetic analysis of de novo dup(5)(q35.2q35.3) and review of the literature of pure partial trisomy 5q.PMID 16770806Read ↗

Patient with dup(5)(q35.2-q35.3) reciprocal to the common Sotos syndrome deletion and review of the literature.Semantic proximity Read ↗

De novo 5q35.5 duplication with clinical presentation of Sotos syndrome.Semantic proximity Read ↗

5q35 duplication syndrome: Narrowing the critical region on the distal side and further evidence of intrafamilial variability and expression.Semantic proximity Read ↗

Molecular cytogenetic analysis of a de novo interstitial deletion of 5q23.3q31.2 and its phenotypic consequences.Semantic proximity Read ↗

Familial short stature due to a 5q22.1-q23.2 duplication refines the 5q duplication spectrum.Semantic proximity Read ↗

A rare case of a boy with de novo microduplication at 5q35.2q35.3 from central Brazil.Semantic proximity Read ↗

Delineation of a 2.2 Mb microdeletion at 5q35 associated with microcephaly and congenital heart disease.Semantic proximity Read ↗

An adult female with 5q34-q35.2 deletion: A rare syndromic presentation of left ventricular non-compaction and congenital heart disease.Semantic proximity Read ↗

The phenotypic spectrum of duplication 5q35.2-q35.3 encompassing NSD1: is it really a reversed Sotos syndrome?Semantic proximity Read ↗

Reversed clinical phenotype due to a microduplication of Sotos syndrome region detected by array CGH: microcephaly, developmental delay and delayed bone age.Semantic proximity Read ↗

Chromosome 5q subtelomeric deletion syndrome.Semantic proximity Read ↗

A novel 5q11.2 microdeletion in a child with mild developmental delay and dysmorphic features.Semantic proximity Read ↗

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