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

The phenotype of a 45,X male with a Y/18 translocation.

Clinical genetics - 1 Jan 1996

Gimelli G, Cinti R, Varone P, Naselli A, Di Battista E, Pezzolo A

Abstract excerpt

In this report, we describe a male infant with a 45,X karyotype; the entire short arm and the centromere of the Y chromosome were translocated onto the short arm of chromosome 18, resulting in an unbalanced dicentric chromosome. Breakpoints were identified by in situ fluorescence hybridization (FISH) on the proximal Yq11 and 18p11.2. Both Y and 18 centromeric alphoid sequences were identified on the derived 18...

Read the complete abstract on PubMed

Topics

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

Share to Abnormalities, Multiple
Share to Child, Preschool
Share to In Situ Hybridization, Fluorescence

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

Share to Karyotyping

Share to Phenotype

Share to Translocation, Genetic

Share to X Chromosome

Share to Y Chromosome

Source

Identifiers

PMID: 8721570
DOI: 10.1111/j.1399-0004.1996.tb04322.x

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

The phenotype of a 45,X male with a Y/18 translocation.PMID 8721570Read ↗

Cytogenetic, molecular and testicular tissue studies in an infertile 45,X male carrying an unbalanced (Y;22) translocation: case report.Semantic proximity Read ↗

Prenatal diagnosis of 45,X/46,X,dic(X;18) mosaicism: a case reportSemantic proximity Read ↗

Two cases of Y; autosome translocations: A 45, X male and a clinically trisomy 18 patientSemantic proximity Read ↗

A Case of a Derivative Chromosome: der(Y)t(Y;18)Pat with Congenital Abnormalities.Semantic proximity Read ↗

Single-nucleotide polymorphism array-based characterization of ring chromosome 18.Semantic proximity Read ↗

Hypospadias in a male infant with an unusual mosaic 45,X/46,X,psu idic(Y)(p11.32)/46,XY and haploinsufficiency of SHOX: A case report.Semantic proximity Read ↗

Verification of a Cryptic T(Y;15) Translocation in a Male With an Apparent 45,X KaryotypeSemantic proximity Read ↗

Familial ring (18) mosaicism in a 23-year-old young adult with 46,XY,r(18) (::p11→q21::)/46,XY karyotype, intellectual disability, motor retardation and single maxillary incisor and in his phenotypically normal mother, karyotype 47,XX,+r(18)(::p11→q21::)/46,XX.Semantic proximity Read ↗

Clinical outcome: a monosomy 18p is better than a tetrasomy 18p.Semantic proximity Read ↗

De novo 12;17 translocation upstream of <i>SOX9</i> resulting in 46,XX testicular disorder of sex developmentSemantic proximity Read ↗

Isodicentric Y chromosomes in Egyptian patients with disorders of sex development (DSD).Semantic proximity Read ↗

Molecular cytogenetic analysis and genetic counseling: a case report of eight 46,XX males and a literature reviewSemantic proximity Read ↗

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