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

[Mixed clinical phenotype of deletion and duplication of the Sotos syndrome region: 5q35.2-q35.3 microdeletion detected by CGH array].

Boletin medico del Hospital Infantil de Mexico - 27 Jul 2021

Loeza-Sierra Héctor A, López-Santos Héctor A, Castro-Coyotl Dulce M

Abstract excerpt

Introducción: El síndrome de Sotos es una enfermedad hereditaria caracterizada por el sobrecrecimiento prenatal y posnatal, con edad ósea avanzada, facies característica y retraso del desarrollo. Caso clínico: Se reporta el caso de un paciente con síndrome de Sotos y manifestaciones clínicas no descritas previamente, diagnosticado por microarreglos de hibridación genómica comparativa. Se detectó la duplicación de...

Read the complete abstract on PubMed

Topics

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

Share to Phenotype
Share to Pregnancy

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Identifiers

PMID: 34314411
DOI: 10.24875/BMHIM.20000325

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

[Mixed clinical phenotype of deletion and duplication of the Sotos syndrome region: 5q35.2-q35.3 microdeletion detected by CGH array].PMID 34314411Read ↗

[Clinical phenotypes and a genetic analysis of patients with Sotos syndrome].Semantic proximity Read ↗

Reversal of Clinical Phenotype of Sotos Syndrome Due to Microduplication of NSD1 Gene.Semantic proximity Read ↗

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

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

Clinical and genetic spectrum of 18 unrelated Korean patients with Sotos syndrome: frequent 5q35 microdeletion and identification of four novel NSD1 mutations.Semantic proximity Read ↗

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

Two cases of Sotos syndrome with novel mutations of the NSD1 gene.Semantic proximity Read ↗

Sotos syndrome.Semantic proximity Read ↗

Identification of Novel NSD1 variations in four Pediatric cases with sotos Syndrome.Semantic proximity Read ↗

Genetic Analysis of a Case of Sotos Syndrome with Suspected Germinal Mosaicism in Mother.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 ↗

Prenatal characterization of novel neurosonographic findings in a fetus with SOTOS syndrome.Semantic proximity Read ↗

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