Genetic and molecular analysis of a new unbalanced X;18 rearrangement: localization of the diminished ovarian reserve disease locus in the distal Xq POF1 region.

doi:10.1093/humrep/der266

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

Back to search

Article

Genetic and molecular analysis of a new unbalanced X;18 rearrangement: localization of the diminished ovarian reserve disease locus in the distal Xq POF1 region.

Human reproduction (Oxford, England) - 1 Nov 2011

Fusco Francesca, Paciolla Mariateresa, Chen Emily, Li Xu, Genesio Rita, Conti Anna, Jones Julie, Poeta Loredana, Lioi Maria Brigida, Ursini Matilde Valeria, Miano Maria Giuseppina

Abstract excerpt

BACKGROUND: Diminished ovarian reserve (DOR) is a heterogeneous disorder causing infertility, characterized by a decreased number of oocytes, the genetic cause of which is still unknown. METHODS AND RESULTS: We describe a family with a new unbalanced X;18 translocation der(X) associated with either fully attenuated or DOR phenotype in the same family. Cytogenetics and array comparative genomic hybridization...

Topics

Adolescent
Adult
Cell Nucleus
Chromosome Aberrations
Chromosomes, Human, Pair 18
Chromosomes, Human, X
Female
Gene Silencing
Humans
In Situ Hybridization, Fluorescence

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Male

Microsatellite Repeats

Middle Aged

Nucleic Acid Hybridization

Oocytes

Ovarian Diseases

Ovary

Phenotype

Source

Open in PubMed

Identifiers

PMID: 21859812
DOI: 10.1093/humrep/der266

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

Community interpretation

Discuss the evidence

Ask a question, add context or challenge an interpretation. Community activity is separate from scientific evidence strength.

discussions

replies

Citations encouraged

Claims remain attributable.

No discussion yet

Be the first to add a careful, cited interpretation.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Genetic and molecular analysis of a new unbalanced X;18 rearrangement: localization of the diminished ovarian reserve disease locus in the distal Xq POF1 region.PMID 21859812Read ↗

X Chromosome Rearrangement Associated with Premature Ovarian Insufficiency as Diagnosed by Molecular Cytogenetic Methods: A Case Reportand review of the literatureSemantic proximity Read ↗

Heterozygosity mapping by quantitative fluorescent PCR reveals an interstitial deletion in Xq26.2-q28 associated with ovarian dysfunction.Semantic proximity Read ↗

Unusual X-chromosome inactivation pattern in patients with Xp11.23-p11.22 duplication: Report and review.Semantic proximity Read ↗

Investigating the role of X chromosome breakpoints in premature ovarian failureSemantic proximity Read ↗

The X chromosome and the ovary.Semantic proximity Read ↗

Delineation of Clinical Manifestations of the Inherited Xq24 Microdeletion Segregating with sXCI in Mothers: Two Novel Cases with Distinct Phenotypes Ranging from UBE2A Deficiency Syndrome to Recurrent Pregnancy Loss.Semantic proximity Read ↗

Recurrent X chromosome-linked deletions: discovery of new genetic factors in male infertilitySemantic proximity Read ↗

Is the resulting phenotype of an embryo with balanced X-autosome translocation, obtained by means of preimplantation genetic diagnosis, linked to the X inactivation pattern?Semantic proximity Read ↗

Review of molecular mechanisms at distal Xq28 leading to balanced or unbalanced genomic rearrangements and their phenotypic impacts on hemophilia.Semantic proximity Read ↗

Chromosome territories, X;Y translocation and Premature Ovarian Failure: is there a relationship?Semantic proximity Read ↗

Unbalanced translocation in an adult patient with premature ovarian failure and mental retardation detected by spectral karyotyping and array-comparative genomic hybridization.Semantic proximity Read ↗

Short stature and primary ovarian insufficiency possibly due to chromosomal position effect in a balanced X;1 translocationSemantic proximity Read ↗

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