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

Another patient with 12q13 microduplication.

American journal of medical genetics. Part A - 1 Aug 2013

Bertoli M, Alesi V, Gullotta F, Zampatti S, Abate M R, Palmieri C, Novelli A, Frontali M, Nardone A M

Abstract excerpt

Interstitial duplication of the long arm of chromosome 12 is a rare cytogenetic condition. While several reports describe distal 12q duplication, only one case report of homogeneous, non-mosaic interstitial 12q13 duplication has been documented to date. The authors of that observation proposed that the associated phenotype represented a phenocopy of Wolf-Hirschhorn syndrome [Dallapiccola et al., 2009]. Only a few...

Read the complete abstract on PubMed

Topics

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

Share to Child
Share to Chromosome Deletion
Share to Chromosomes, Human, Pair 12

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Comparative Genomic Hybridization

Share to In Situ Hybridization, Fluorescence

Share to Phenotype

Share to Review Literature as Topic

Source

Identifiers

PMID: 23824684
DOI: 10.1002/ajmg.a.35991

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Another patient with 12q13 microduplication.PMID 23824684Read ↗

Interstitial microduplication 12q13.2-q13.3 in a patient with dysmorphism, developmental delay, atypical seizures and hypospadias: not a phenocopy of Wolf-Hirschhorn syndrome.Semantic proximity Read ↗

Novel findings, mini-review and dysmorphological characterization of 16p13.11 microduplication syndrome.Semantic proximity Read ↗

17q12 microduplications: a challenge for clinicians.Semantic proximity Read ↗

Complex chromosome rearrangement of 6p25.3->p23 and 12q24.32->qter in a child with moyamoya.Semantic proximity Read ↗

Phenotypic variability in trisomy 13 mosaicism: two new patients and literature review.Semantic proximity Read ↗

Interstitial deletion 14q31.1q31.3 transmitted from a mother to her daughter, both with features of hemifacial microsomia.Semantic proximity Read ↗

14q13.1-21.1 deletion encompassing the HPE8 locus in an adolescent with intellectual disability and bilateral microphthalmia, but without holoprosencephaly.Semantic proximity Read ↗

Phenocopy of Wolf-Hirschhorn syndrome in a patient with duplication 12q13.3q14.1.Semantic proximity Read ↗

The natural history of trisomy 12pSemantic proximity Read ↗

Two cousins with partial trisomy 12q and monosomy 12p recombinants of a familial pericentric inversion of the chromosome 12Semantic proximity Read ↗

Epimutation at human chromosome 14q32.2 in a boy with a upd(14)mat-like clinical phenotype.Semantic proximity Read ↗

Mosaic proximal trisomy 13q and regular trisomy 13 in a female patient with long survival: Involvement of an incomplete trisomic rescue and a chromothripsis event.Semantic proximity Read ↗

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