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

Inverted duplications are recurrent rearrangements always associated with a distal deletion: description of a new case involving 2q.

European journal of human genetics : EJHG - 1 Aug 2000

Bonaglia M C, Giorda R, Poggi G, Raggi M E, Rossi E, Baroncini A, Giglio S, Borgatti R, Zuffardi O

Abstract excerpt

We studied the case of a subject with an inverted duplication of 40 cM of 2q33-q37 concurrent with a 10 cM deletion of the distal 2q, the latter not being detectable by cytogenetics. Microsatellite analysis demonstrated the absence of maternal alleles in the deleted region and a double dosage for one of the maternal alleles in the duplication region. We hypothesised that this type of rearrangement occurs at...

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 Chromosome Breakage

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

Share to Chromosomes, Human, Pair 2

Share to Fibrous Dysplasia, Polyostotic

Share to Gene Duplication

Share to Gene Rearrangement

Share to Growth Disorders

Share to Meiosis

Source

Identifiers

PMID: 10951522
DOI: 10.1038/sj.ejhg.5200509

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

Inverted duplications are recurrent rearrangements always associated with a distal deletion: description of a new case involving 2q.PMID 10951522Read ↗

Inverted duplication with deletion: first interstitial case suggesting a novel undescribed mechanism of formation.Semantic proximity Read ↗

Recurrent inverted duplication of 2p with terminal deletion in a patient with the classical phenotype of trisomy 2p23-pter.Semantic proximity Read ↗

A familial inverted duplication/deletion of 2p25.1–25.3 provides new clues on the genesis of inverted duplicationsSemantic proximity Read ↗

Inverted duplications deletions: underdiagnosed rearrangements??Semantic proximity Read ↗

Relatives with opposite chromosome constitutions, rec(10)dup(10p)inv(10)(p15.1q26.12) and rec(10)dup(10q)inv(10)(p15.1q26.12), due to a familial pericentric inversion.Semantic proximity Read ↗

Inversion polymorphisms and non-contiguous terminal deletions: the cause and the (unpredicted) effect of our genome architecture.Semantic proximity Read ↗

Inverted duplication of 8p: Ten new patients and review of the literatureSemantic proximity Read ↗

Nested Inversion Polymorphisms Predispose Chromosome 22q11.2 to Meiotic Rearrangements.Semantic proximity Read ↗

Initial maternal meiotic I error leading to the formation of a maternal i(2q) and a paternal i(2p) in a healthy maleSemantic proximity Read ↗

Three unrelated cases of paracentric inversions of 1p in individuals with abnormal phenotypes.Semantic proximity Read ↗

Recombinants of intrachromosomal transposition of subtelomeres in chromosomes 1 and 2: a cause of minute terminal chromosomal imbalances.Semantic proximity Read ↗

Parental origin of deletions and duplications – about the necessity to check for cryptic inversionsSemantic proximity Read ↗

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