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

Small supernumerary marker chromosome causing partial trisomy 6p in a child with craniosynostosis.

American journal of medical genetics. Part A - 15 May 2007

Villa Olaya, Del Campo Miguel, Salido Marta, Gener Blanca, Astier Laura, Del Valle Jesús, Gallastegui Fátima, Pérez-Jurado Luis A, Solé Francesc

Abstract excerpt

We report on a child with a small supernumerary marker chromosome (sSMC) causing partial trisomy 6p. The child showed a phenotype consisting of neonatal craniosynostosis, microcephaly, and borderline developmental delay. By molecular techniques the sSMC has been shown to contain approximately 16 Mb of genomic DNA from 6p21.1 to 6cen, being de novo and of maternal origin.

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 Chromosomes, Human, Pair 6

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

Share to Craniosynostoses

Share to DNA Mutational Analysis

Share to Genetic Markers

Share to In Situ Hybridization, Fluorescence

Share to Infant

Share to Trisomy

Source

Identifiers

PMID: 17431916
DOI: 10.1002/ajmg.a.31709

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

Small supernumerary marker chromosome causing partial trisomy 6p in a child with craniosynostosis.PMID 17431916Read ↗

[Prenatal diagnosis of three fetuses with small supernumerary marker chromosomes].Semantic proximity Read ↗

Prenatal diagnosis of a 16p11.2p11.1 mosaic small supernumerary marker chromosome (sSMC)Semantic proximity Read ↗

Small supernumerary marker chromosomes (sSMC) in humansSemantic proximity Read ↗

Supernumerary marker chromosomes derived from chromosome 6: Cytogenetic, molecular cytogenetic, and array CGH characterizationSemantic proximity Read ↗

The first case of a small supernumerary marker chromosome derived from chromosome 10 in an adult woman with an apparently normal phenotype.Semantic proximity Read ↗

Molecular Delineation of De Novo Small Supernumerary Marker Chromosomes in Prenatal Diagnosis, A Retrospective StudySemantic proximity Read ↗

Congenital anomalies and developmental delay in a boy with double chromosome 6 derived supernumerary marker.Semantic proximity Read ↗

Small supernumerary marker chromosomes 1 with a normal phenotype.Semantic proximity Read ↗

Small marker chromosomes in two patients with segmental aneusomy for proximal 17p.Semantic proximity Read ↗

Small supernumerary marker chromosomes--progress towards a genotype-phenotype correlation.Semantic proximity Read ↗

Trisomy 17p10-p12 resulting from a supernumerary marker chromosome derived from chromosome 17: molecular analysis and delineation of the 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 ↗

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