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

Down-Turner syndrome: case report and review.

Journal of medical genetics - 1 Oct 1994

Van Buggenhout G J, Hamel B C, Trommelen J C, Mieloo H, Smeets D F

Abstract excerpt

We present a male patient with Down-Turner mosaicism (45,X/46,X,+21/47,XY,+21) and review 27 similar cases reported so far. Clinical features of Down's syndrome were present in all cases, whereas a combination of features of both Ullrich-Turner syndrome and Down's syndrome was reported in 61% of the patients. However, one has to bear in mind that several stigmata of Ullrich-Turner syndrome can also be present in...

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 Down Syndrome
Share to Genitalia, Female

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

Share to Lymphocytes

Share to Mosaicism

Share to Phenotype

Share to X Chromosome

Share to Y Chromosome

Source

Open in PubMed Open full text

Identifiers

PMID: 7837259
DOI: 10.1136/jmg.31.10.807
PMCID: PMC1050129

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

Down-Turner syndrome: case report and review.PMID 7837259Read ↗

Multiple Aneuploidy: First Report of a Patient Presenting with a Karyotype 45,X/48,XXX,+21.Semantic proximity Read ↗

Down syndrome: a review of the literature.Semantic proximity Read ↗

Prenatal Diagnosis of mos45,X/46,X,+mar in a Fetus With Normal Male External Genitalia and a Literature ReviewSemantic proximity Read ↗

A male case with double aneuploidy (48,XXY,+21).Semantic proximity Read ↗

Turner syndrome: From birth to adulthood.Semantic proximity Read ↗

Double aneuploidy in three Egyptian patients: Down-Turner and Down-Klinefelter syndromes.Semantic proximity Read ↗

[Analysis of two cases of Turner syndrome with 45,X/46,XY karyotype].Semantic proximity Read ↗

Ullrich-Turner phenotype with unusual manifestation in a patient with mosaicism 45,X/47,XX,+18.Semantic proximity Read ↗

Down-Klinefelter syndrome (48,XXY,+21) in a child with congenital heart disease: case report and literature review.Semantic proximity Read ↗

Double trisomy (XXX+21 karyotype) in a six-year-old girl with down phenotype.Semantic proximity Read ↗

Recombinant Down syndrome: a case report and literature review.Semantic proximity Read ↗

Reproduction in Down's syndromeSemantic proximity Read ↗

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