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

Sex reversal from functional disomy of Xp: prenatal and post-mortem findings.

American journal of medical genetics. Part A - 15 Oct 2008

Piccione Maria, Maresi Emiliano, Zollino Marcella, Sanfilippo Cinzia, Seminara Laura, Neri Giovanni, Corsello Giovanni

Abstract excerpt

Translocations involving the short arms of the X and Y chromosomes are uncommon and are often associated with anomalies in gonadal development. Segmental duplications of the X chromosome interfere with the formation of the testis in patients with a 46,XY karyotype. The gene products located within the duplicated segment, when present in double dose, may affect on male sex development. We report on a fetus with...

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 Painting

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

Share to Chromosomes, Human, Pair 14

Share to Disorders of Sex Development

Share to Sex Chromosome Aberrations

Share to Sex Chromosomes

Share to Tetralogy of Fallot

Share to Ultrasonography

Source

Identifiers

PMID: 18798322
DOI: 10.1002/ajmg.a.32514

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

Sex reversal from functional disomy of Xp: prenatal and post-mortem findings.PMID 18798322Read ↗

Functional monosomy of 6q27-qter and functional disomy of Xpter-p22.11 due to X;6 translocation with an atypical X-inactivation pattern.Semantic proximity Read ↗

Molecular cytogenetic analysis of a duplication Xp in a female with an abnormal phenotype and random X inactivation.Semantic proximity Read ↗

Partial Xp11.23-p11.4 duplication with random X inactivation: clinical report and molecular cytogenetic characterization.Semantic proximity Read ↗

Partial disomy of Xp and the presence of SRY in a phenotypic female.Semantic proximity Read ↗

Sex determining gene on the X chromosome short arm: dosage sensitive sex reversal.Semantic proximity Read ↗

Xp duplications and sex reversal.Semantic proximity Read ↗

A duplication of distal Xp associated with hypogonadotrophic hypogonadism, hypoplastic external genitalia, mental retardation, and multiple congenital abnormalities.Semantic proximity Read ↗

Characteristics and clinical evaluation of X chromosome translocationsSemantic proximity Read ↗

Disomy of distal Xq in males: case report and overview.Semantic proximity Read ↗

A dosage sensitive locus at chromosome Xp21 is involved in male to female sex reversal.Semantic proximity Read ↗

Deletions and translocations involving the distal short arm of the human X chromosome: review and hypotheses.Semantic proximity Read ↗

Prenatal diagnosis and prenatal imaging of a <i>de novo</i> 46,X,der(Y)t(X;Y)(p22.13;q11.23) leading to functional disomy for the distal end of the X chromosome short arm from Xp22.13 in a phenotypically male fetus with posterior fossa abnormalitiesSemantic proximity Read ↗

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