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

Pure 16q21q22.1 deletion in a complex rearrangement possibly caused by a chromothripsis event

1 Aug 2013

Abstract excerpt

BACKGROUND: Partial monosomies of chromosome 16q are rare and overlapping effects from complex chromosomal rearrangements often hamper genotype-phenotype correlations for such imbalances. Here, we report the clinical features of an isolated partial monosomy 16q21q22.1 in a boy with a complex de novo rearrangement possibly resulting from a chromothripsis event. RESULTS: The patient presented with low birth weight,...

Read the complete abstract on PubMed

Topics

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

Share to Congenital Ear and Nasal Anomalies
Share to Congenital heart defects research
Share to Genomic variations and chromosomal abnormalities

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Identifiers

PMID: 23915422
DOI: 10.1186/1755-8166-6-29

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Pure 16q21q22.1 deletion in a complex rearrangement possibly caused by a chromothripsis eventPMID 23915422Read ↗

Microtriplication of 11q24.1: a highly recognisable phenotype with short stature, distinctive facial features, keratoconus, overweight, and intellectual disability.Semantic proximity Read ↗

A rare case of mosaic monosomy 21 in a Moroccan patient: clinical findings and insights from a systematic review.Semantic proximity Read ↗

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

Clinical, cytogenetic and molecular-cytogenetic characterization of a patient with a de novo tandem proximal-intermediate duplication of 16q and review of the literature.Semantic proximity Read ↗

A Patient with Trisomy 4p and Monosomy 10qSemantic proximity Read ↗

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

Genomic analysis of partial 21q monosomies with variable phenotypes.Semantic proximity Read ↗

Unbalanced X;14 Translocation Leading to Turner Syndrome Phenotype: a case report and review of literatureSemantic proximity Read ↗

Expanding the phenotypic spectrum of Chromosome 16p13.11 microduplication: A multicentric analysis of 206 patients.Semantic proximity Read ↗

Trisomy 12p and monosomy 4p: phenotype-genotype correlation.Semantic proximity Read ↗

Unbalanced inherited complex chromosome rearrangement involving chromosome 8, 10, 11 and 16 in a patient with congenital malformations and delayed development.Semantic proximity Read ↗

Combined partial trisomy 11q and partial monosomy 10p in a 19-year-old female patient: phenotypic and genotypic findings.Semantic proximity Read ↗

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