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

Phenotypic variability of a deletion and duplication 6q16.1 → q21 due to a paternal balanced ins(7;6)(p15;q16.1q21).

American journal of medical genetics. Part A - 1 Nov 2010

Spreiz Ana, Müller Doris, Zotter Sibylle, Albrecht Ursula, Baumann Matthias, Fauth Christine, Erdel Martin, Zschocke Johannes, Utermann Gerd, Kotzot Dieter

Abstract excerpt

Constitutional insertional translocations are rare findings in clinical cytogenetics. Here, we report on the unbalanced segregation of a balanced paternal insertional translocation ins(7;6)(p15;q16.1q21) to three children. Investigations by conventional karyotyping, FISH with locus-specific probes, microsatellite marker analysis, and SNP-array based copy number analysis revealed a direct orientation of the...

Read the complete abstract on PubMed

Topics

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

Share to Chromosome Deletion
Share to Chromosome Duplication

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Chromosomes, Human, Pair 6

Share to Chromosomes, Human, Pair 7

Share to Mutagenesis, Insertional

Share to Neuropsychological Tests

Share to Pregnancy

Share to Trisomy

Source

Identifiers

PMID: 20954245
DOI: 10.1002/ajmg.a.33699

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

Phenotypic variability of a deletion and duplication 6q16.1 → q21 due to a paternal balanced ins(7;6)(p15;q16.1q21).PMID 20954245Read ↗

Deletion 2p15-16.1 syndrome: case report and review.Semantic proximity Read ↗

Interstitial deletions of chromosome 6q: genotype-phenotype correlation utilizing array CGH.Semantic proximity Read ↗

A distinctive phenotype associated with an interstitial deletion 6q14 contained within a de novo pericentric inversion 6 (p11.2q15).Semantic proximity Read ↗

A pure familial 6q15q21 split duplication associated with obesity and transmitted with partial reduction.Semantic proximity Read ↗

The first patient with tandem duplication of 6q14q16: Molecular and phenotypic characterization.Semantic proximity Read ↗

A maternal de novo non-reciprocal translocation results in a 6q13-q16 deletion in one offspring and a 6q13-q16 duplication in another.Semantic proximity Read ↗

A new case of interstitial 6q16.2 deletion in a patient with Prader-Willi-like phenotype and investigation of SIM1 gene deletion in 87 patients with syndromic obesity.Semantic proximity Read ↗

Detailed phenotype-genotype study in five patients with chromosome 6q16 deletion: narrowing the critical region for Prader-Willi-like phenotype.Semantic proximity Read ↗

Deletion and duplication of 11p13-11p14: reciprocal aberrations derived from a paternal insertion.Semantic proximity Read ↗

Phenotype-genotype characterization of alpha-thalassemia mental retardation syndrome due to isolated monosomy of 16p13.3.Semantic proximity Read ↗

Pure 16q21q22.1 deletion in a complex rearrangement possibly caused by a chromothripsis eventSemantic proximity Read ↗

New euchromatic variant dup(11)(p15.3p15.1) transmitted through two generations defined by low coverage whole genome sequencing.Semantic proximity Read ↗

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