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

Clinical, cytogenetic, and molecular characterization of a patient with a de novo interstitial 22q12 duplication.

American journal of medical genetics. Part A - 1 Jun 2004

Gentile M, Wuyts W, Grittani S, Di Carlo A, Cariola F, Verdyck P, Margari L, Perniola T, Buonadonna A L

Abstract excerpt

We report a 19-year-old woman with minor craniofacial anomalies, mild mental retardation, and foramina parietalia permagna (FPP) (OMIM 168500). Cytogenetic analysis showed a de novo interstitial chromosome 22 long arm duplication. FISH with a panel of chromosome 22q12-q13 bands-specific BAC clones refined the cytogenetic investigation, and restricted the duplicated segment to the q12 region. Mutation analysis of...

Read the complete abstract on PubMed

Topics

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

Share to Abnormalities, Multiple
Share to Chromosome Aberrations

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

Share to Chromosome Disorders

Share to Chromosomes, Human, Pair 22

Share to Craniofacial Abnormalities

Share to Cytogenetic Analysis

Share to In Situ Hybridization, Fluorescence

Share to Intellectual Disability

Source

Identifiers

PMID: 15108208
DOI: 10.1002/ajmg.a.20672

Genes

ALX4

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

Clinical, cytogenetic, and molecular characterization of a patient with a de novo interstitial 22q12 duplication.PMID 15108208Read ↗

11p11.12p12 duplication in a family with intellectual disability and craniofacial anomalies.Semantic proximity Read ↗

Unusual X-chromosome inactivation pattern in patients with Xp11.23-p11.22 duplication: Report and review.Semantic proximity Read ↗

Review of the Pathophysiology and Clinical Manifestations of 22q11.2 Deletion and Duplication SyndromesSemantic proximity Read ↗

9 Mb familial duplication in chromosome band Xp22.2-22.13 associated with mental retardation, hypotonia and developmental delay, scoliosis, cardiovascular problems and mild dysmorphic facial features.Semantic proximity Read ↗

Interstitial 12p Deletion Syndrome: Revised Minimal Critical Region and Review of the Literature.Semantic proximity Read ↗

Molecular cytogenetic analysis of a de novo interstitial deletion of 5q23.3q31.2 and its phenotypic consequences.Semantic proximity Read ↗

Pure de-novo 5 Mb duplication at Xp11.22-p11.23 in a male: phenotypic and molecular characterization.Semantic proximity Read ↗

Characterization of a 8q21.11 microdeletion syndrome associated with intellectual disability and a recognizable phenotype.Semantic proximity Read ↗

Familial interstitial deletion 11(p11.12p12) associated with parietal foramina, brachymicrocephaly, and mental retardationSemantic proximity Read ↗

Clinical and molecular characterization of overlapping interstitial Xp21-p22 duplications in two unrelated individuals.Semantic proximity Read ↗

Large Duplications Can Be Benign Copy Number Variants: A Case of a 3.6-Mb Xq21.33 Duplication.Semantic proximity Read ↗

A de novo 10p11.23-p12.1 deletion recapitulates the phenotype observed in WAC mutations and strengthens the role of WAC in intellectual disability and behavior disorders.Semantic proximity Read ↗

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