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

[A de novo partial 5p deletion and cryptic 18p duplication detected by SNP-Array in a boy featuring Cri du Chat syndrome].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 1 Feb 2013

Hu Jian-cheng, Tan Ke, Cheng De-hua, Li Lu-yun, Lu Guang-xiu, Tan Yue-qiu

Abstract excerpt

OBJECTIVE: To determine the karyotype of a boy suspected to have Cri du Chat syndrome with severe clinical manifestations, and to assess the recurrence risk for his family. METHODS: High-resolution GTG banding was performed to analyze the patient and his parents. Fluorescence in situ hybridization (FISH) with Cri du Chat syndrome region probe as well as subregional probes mapped to 5pter, 5qter, 18pter, 18qter,...

Read the complete abstract on PubMed

Topics

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

Share to Child, Preschool
Share to Chromosome Banding

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

Share to Chromosome Deletion

Share to Chromosomes, Human, Pair 18

Share to Chromosomes, Human, Pair 5

Share to In Situ Hybridization, Fluorescence

Share to Polymorphism, Single Nucleotide

Share to Trisomy

Source

Identifiers

PMID: 23450488
DOI: 10.3760/cma.j.issn.1003-9406.2013.01.021

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

[A de novo partial 5p deletion and cryptic 18p duplication detected by SNP-Array in a boy featuring Cri du Chat syndrome].PMID 23450488Read ↗

[Accidental finding of a cri du chat syndrome in an adult patient by means of array-CGH].Semantic proximity Read ↗

Cri-du-Chat Syndrome Cytogenetically Cryptic Recombination Aneusomy of Chromosome 5: Implications in Recurrence Risk EstimationSemantic proximity Read ↗

A variant Cri du Chat phenotype and autism spectrum disorder in a subject with de novo cryptic microdeletions involving 5p15.2 and 3p24.3-25 detected using whole genomic array CGH.Semantic proximity Read ↗

Characterization of a de novo complex chromosomal rearrangement in a patient with cri-du-chat and trisomy 5p syndromes.Semantic proximity Read ↗

A de novo cryptic 5p deletion and 9p duplication detected by subtelomeric MLPA in a boy with cri du chat syndrome.Semantic proximity Read ↗

Clinical and molecular characterisation of 80 patients with 5p deletion: genotype-phenotype correlation.Semantic proximity Read ↗

When Cri du chat syndrome meets Edwards syndrome.Semantic proximity Read ↗

Clinical and molecular characterization of 12 prenatal cases of Cri-du-chat syndrome.Semantic proximity Read ↗

Variability in a family with an insertion involving 5p.Semantic proximity Read ↗

Differences in DNA methylation status explain phenotypic variability in patients with 5p- syndrome.Semantic proximity Read ↗

Cri du Chat syndrome.Semantic proximity Read ↗

Fortuitous FISH diagnosis of an interstitial microdeletion (5)(q31.1q31.2) in a girl suspected to present a cri-du-chat syndrome.Semantic proximity Read ↗

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