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

[Genetic analysis of a child with Sotos syndrome].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 10 Feb 2020

Luo Yuqin, Sun Yixi, Qian Yeqing, Shen Min, Wang Liya, Jin Fan, Dong Minyue

Abstract excerpt

OBJECTIVE: To explore the genetic basis for a child with mentally retardation. METHODS: G-banding karyotyping, single nucleotide polymorphism array (SNP-array) and fluorescence in situ hybridization (FISH) were performed for the child. Karyotyping and FISH were also carried out for her parents. RESULTS: SNP-array has detected a 5077 kb microdeletion at 5q35.2q35.3 and a 4964 kb microduplication at 7q36.2q36.3 in...

Read the complete abstract on PubMed

Topics

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

Share to Child
Share to Chromosome Banding

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Genetic Testing

Share to In Situ Hybridization, Fluorescence

Share to Karyotyping

Share to Polymorphism, Single Nucleotide

Share to Translocation, Genetic

Source

Identifiers

PMID: 32034736
DOI: 10.3760/cma.j.issn.1003-9406.2020.02.006

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

[Genetic analysis of a child with Sotos syndrome].PMID 32034736Read ↗

[Genetic analysis of a child with mental retardation and hypospadia].Semantic proximity Read ↗

[Genetic study of a child with developmental delay and mental retardation].Semantic proximity Read ↗

[Phenotypic and genetic analysis of a child with partial trisomy 7q].Semantic proximity Read ↗

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

[Genetic analysis of a child with XYY syndrome mainly featuring mental retardation].Semantic proximity Read ↗

[Phenotypic and genetic analysis of a boy with a 10p15.3 deletion and partial trisomy 18p 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 ↗

[Phenotypic and genetic analysis of a child featuring multiple malformations due to chromosome 14q deletion].Semantic proximity Read ↗

[Molecular genetic analysis of a child with de novo 16p11.2 microdeletion].Semantic proximity Read ↗

[SNP array and cytogenetic analysis of a patient with unexplained mental retardation].Semantic proximity Read ↗

[Cytogenetic and molecular characterization of partial trisomy 4q and partial monosomy 10q in a patient].Semantic proximity Read ↗

[Two cases of partial trisomy 8p derived from paternal reciprocal translocation or maternal insertion translocation: clinical features and genetic abnormalities].Semantic proximity Read ↗

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