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

46,XY/47,XYY/48,XYYY karyotype in a 3-year-old boy ascertained because of radioulnar synostosis.

American journal of medical genetics - 8 May 1995

James C, Robson L, Jackson J, Smith A

Abstract excerpt

Chromosome analysis was performed on a 3-year-old boy because of bilateral radioulnar synostosis and demonstrated a mosaic karyotype 46,XY/47,XYY/48,XYYY. He had minor facial anomalies and mild intellectual delay. He appears to be the youngest patient reported with this rare chromosome complement. His father, mother, and brother had normal chromosomes. Fluorescence in situ hybridization (FISH) was performed on...

Topics

Aneuploidy
Child, Preschool
Humans
In Situ Hybridization, Fluorescence
Karyotyping
Male
Mosaicism
Phenotype
Radiography
Radius
Synostosis
Ulna

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

XYY Karyotype

Y Chromosome

Source

Identifiers

PMID: 7604847
DOI: 10.1002/ajmg.1320560408

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-7604847-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

Community interpretation

Discuss the evidence

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

0

discussions

0

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 · 11 closest

46,XY/47,XYY/48,XYYY karyotype in a 3-year-old boy ascertained because of radioulnar synostosis.PMID 7604847Read ↗

49,XXXXY: a distinct phenotype. Three new cases and review.Semantic proximity Read ↗

Different phenotypes in two cases of an apparently identical familial (Yq;13p) translocation.Semantic proximity Read ↗

Proximal radio-ulnar synostosis with bone marrow failure syndrome in an infant without a HOXA11 mutation.Semantic proximity Read ↗

Interstitial deletion of 8q13.3-->22.1 associated with craniosynostosis.Semantic proximity Read ↗

Deletion or triplication of the alpha 3 (VI) collagen gene in three patients with 2q37 chromosome aberrations and symptoms of collagen-related disorders.Semantic proximity Read ↗

Cytogenetic and molecular characterization of two isodicentric Y chromosomes.Semantic proximity Read ↗

Cleft palate in a rare case of Variant Klinefelter syndrome with 48,XXXY/46,XY mosaicism.Semantic proximity Read ↗

Case report: Y;6 translocation with deletion of 6p.Semantic proximity Read ↗

Loss of the 3p25.3 band is critical in the manifestation of del(3p) syndrome: karyotype-phenotype correlation in cases with deficiency of the distal portion of the short arm of chromosome 3.Semantic proximity Read ↗

[Karyptype 48,XXXY/49,XXXXY and proximal radioulnar synostosis].Semantic proximity Read ↗

Unilateral radio-ulnar synostosis and idic-Y chromosome.Semantic proximity Read ↗

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