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

Cytogenomic and phenotypic analysis in low-level monosomy 7 mosaicism with non-supernumerary ring chromosome 7.

American journal of medical genetics. Part A - 1 Jul 2014

Salas-Labadía Consuelo, Cervantes-Barragán David E, Cruz-Alcívar Roberto, Daber Robert D, Conlin Laura K, Leonard Laura D, Spinner Nancy B, Durán-McKinster Carola, Dávila-Ortíz de Montellano David J, Del Castillo-Ruiz Victoria, Pérez-Vera Patricia

Abstract excerpt

We present the literature review of ring chromosome 7 and clinical, cytogenetic and fine molecular mapping of the first postnatal report of a male child with a non-supernumerary ring chromosome 7, r(7). The patient had dysmorphic features, developmental delay, dermatologic lesions with variable pigmentation, hypogenitalism, lumbar dextroscoliosis, cerebellar and ophthalmological abnormalities, and melanocytic...

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 Disorders

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Chromosomes, Human, Pair 7

Share to Comparative Genomic Hybridization

Share to Cytogenetic Analysis

Share to In Situ Hybridization, Fluorescence

Share to Mosaicism

Share to Ring Chromosomes

Source

Identifiers

PMID: 24677512
DOI: 10.1002/ajmg.a.36503

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Cytogenomic and phenotypic analysis in low-level monosomy 7 mosaicism with non-supernumerary ring chromosome 7.PMID 24677512Read ↗

Molecular cytogenetic characterization of a de novo mosaic supernumerary ring chromosome 7: report of a new patient.Semantic proximity Read ↗

Characterization of a de novo Supernumerary Neocentric Ring Chromosome Derived from Chromosome 7Semantic proximity Read ↗

Discordant phenotypes in a mother and daughter with mosaic supernumerary ring chromosome 19 explained by a de novo 7q36.2 deletion and 7p22.1 duplication.Semantic proximity Read ↗

Molecular cytogenetic characterization of a small, familial supernumerary ring chromosome 7 associated with mental retardation and an abnormal phenotype.Semantic proximity Read ↗

Molecular cytogenetic characterization of mosaicism for a small supernumerary marker chromosome derived from chromosome 8 or r(8)(::p12→q13.1::) associated with phenotypic abnormalities.Semantic proximity Read ↗

Childhood monosomy 7: epidemiology, biology, and mechanistic implications.Semantic proximity Read ↗

Severe anomalies associated with ring chromosome 7.Semantic proximity Read ↗

Ring chromosome 7 in an Indian woman.Semantic proximity Read ↗

Partial trisomy 8 mosaicism due to a pseudoisodicentric chromosome 8.Semantic proximity Read ↗

Mosaic supernumerary r(8) syndrome.Semantic proximity Read ↗

Rare Causes and Differential Diagnosis in Patients With Silver-Russell Syndrome.Semantic proximity Read ↗

Supernumerary ring chromosome 7 mosaicism: case report, investigation of the gene content, and delineation of the phenotype.Semantic proximity Read ↗

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