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

Intrachromosomal triplication of distal 7p.

Journal of medical genetics - 1 Jan 1998

Rivera H, Bobadilla L, Rolon A, Kunz J, Crolla J A

Abstract excerpt

A female infant who died at 2 years of age with growth and psychomotor retardation, wide anterior fontanelle, downward slanting palpebral fissures, large, simple ears, joint dislocation/contractures, recurrent infections, and severe pulmonary hypertension was found to have a de novo 7p+ chromosome. The G banding pattern was suggestive of a triplication of 7p21.3 and 7p22; results of fluorescence in situ...

Read the complete abstract on PubMed

Topics

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

Share to Phenotype
Share to Abnormalities, Multiple
Share to Chromosome Aberrations

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

Share to Chromosome Inversion

Share to Chromosomes, Human, Pair 7

Share to Growth Disorders

Share to In Situ Hybridization, Fluorescence

Share to Infant, Newborn

Source

Open in PubMed Open full text

Identifiers

PMID: 9475103
DOI: 10.1136/jmg.35.1.78
PMCID: PMC1051195

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

Intrachromosomal triplication of distal 7p.PMID 9475103Read ↗

Genomic complexity and complex chromosomal rearrangements in genetic diagnosis: example from two emblematic cases on chromosome 7Semantic proximity Read ↗

Interstitial deletion of 7q31.32 → q33 secondary to a paracentric inversion of a maternal chromosome 7Semantic proximity Read ↗

Combined Dup(7)(q22.1q32.2), Inv(7)(q31.31q31.33), and Ins(7;19)(q22.1;p13.2p13.2) in a 12-year-old boy with developmental delay and various dysmorphism.Semantic proximity Read ↗

Tetrasomy 9p due to an intrachromosomal triplication of 9p13-p22.Semantic proximity Read ↗

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

A New Case of Pure Partial 7q DuplicationSemantic proximity Read ↗

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

An interstitial deletion of chromosome 7 at band q21: a case report and review.Semantic 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 ↗

Severe phenotype in a girl with partial tetrasomy 7, karyotype 46,XX,trp(7)(q35q36).Semantic proximity Read ↗

Recombinant Chromosome 7 Driven by Maternal Chromosome 7 Pericentric Inversion in a Girl with Features of Silver-Russell Syndrome.Semantic proximity Read ↗

Duplication of 7p21.2-->pter due to maternal 7p;21q translocation: implications for critical segment assignment in the 7p duplication syndrome.Semantic proximity Read ↗

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