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

Characterization of a complex chromosomal rearrangement in a patient with a typical catlike cry and no other clinical findings of cri-du-chat syndrome.

American journal of medical genetics - 17 Sept 1999

Sreekantaiah C, Kronn D, Marinescu R C, Goldin B, Overhauser J

Abstract excerpt

We report on the clinical, cytogenetic, and molecular cytogenetic findings in a 4-year-old girl who was evaluated for developmental delay and a catlike cry from birth. No other findings of cri-du-chat syndrome were present. Karyotype analysis demonstrated a de novo deletion and inverted duplication of the 5p region. The abnormality was confirmed and further defined by detailed FISH analysis using cosmid and...

Read the complete abstract on PubMed

Topics

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

Share to Chromosome Banding
Share to Chromosome Deletion

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

Share to Chromosome Inversion

Share to Chromosomes, Human, Pair 5

Share to Cytogenetics

Share to Developmental Disabilities

Share to Facies

Share to In Situ Hybridization, Fluorescence

Source

Identifiers

PMID: 10482877

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

Characterization of a complex chromosomal rearrangement in a patient with a typical catlike cry and no other clinical findings of cri-du-chat syndrome.PMID 10482877Read ↗

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

Cri du chat syndrome determined by the 5p15.3-->pter deletion--diagnostic problems.Semantic proximity Read ↗

Inverted duplication with terminal deletion of 5p and no cat-like cry.Semantic proximity Read ↗

Molecular and phenotypic mapping of the short arm of chromosome 5: sublocalization of the critical region for the cri-du-chat syndrome.Semantic proximity Read ↗

Development of diagnostic tools for the analysis of 5p deletions using interphase FISH.Semantic proximity Read ↗

Determination of the 'critical region' for cat-like cry of Cri-du-chat syndrome and analysis of candidate genes by quantitative PCR.Semantic 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 ↗

Delineation of the dup5q phenotype by molecular cytogenetic analysis in a patient with dup5q/del 5p (cri du chat).Semantic proximity Read ↗

Cri du chat mosaicism: an unusual case of partial deletion and partial deletion/ duplication of the short arm of chromosome 5, leading to an unusual cri du chat phenotype.Semantic proximity Read ↗

Familial double pericentric inversion of chromosome 5 with some features of cri-du-chat syndrome.Semantic proximity Read ↗

Cri du Chat syndrome.Semantic proximity Read ↗

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

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