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

Adult with an interstitial deletion of chromosome 10 [del(10)(q25. 1q25.3)]: overlap with Coffin-Lowry syndrome.

American journal of medical genetics - 13 Nov 2000

McCandless S E, Schwartz S, Morrison S, Garlapati K, Robin N H

Abstract excerpt

We recently evaluated a mentally retarded 48 year old man found to have a cytogenetic deletion of chromosome 10 [46,XY,del(10) (q25. 1q25.3)]. Of interest, he shares many clinical findings with those described in Coffin-Lowry syndrome (CLS). These include severe mental retardation, short stature and a coarse facial appearance with widely spaced eyes, and patulous lips. He also had an extra transverse hypothenar...

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 Chromosomes, Human, Pair 10

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Facies

Share to Hand Deformities, Congenital

Share to MAP Kinase Signaling System

Share to Radiography

Share to Ribosomal Protein S6 Kinases

Share to X Chromosome

Source

Identifiers

PMID: 11078556
DOI: 10.1002/1096-8628(20001113)95:2<93::aid-ajmg1>3.0.co;2-b

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.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Adult with an interstitial deletion of chromosome 10 [del(10)(q25. 1q25.3)]: overlap with Coffin-Lowry syndrome.PMID 11078556Read ↗

Mutations in the kinase Rsk-2 associated with Coffin-Lowry syndrome.Semantic proximity Read ↗

Coffin-Lowry syndrome: clinical and molecular features.Semantic proximity Read ↗

A syndromic form of X-linked mental retardation: the Coffin-Lowry syndrome.Semantic proximity Read ↗

A novel RSK2 (RPS6KA3) gene mutation associated with abnormal brain MRI findings in a family with Coffin-Lowry syndrome.Semantic proximity Read ↗

Novel mutations in Rsk-2, the gene for Coffin-Lowry syndrome (CLS).Semantic proximity Read ↗

[Coffin-Lowry syndrome: Case report in Mexico].Semantic proximity Read ↗

Deletion of the distal long arm of chromosome 10; is there a characteristic phenotype? A report of 15 de novo and familial cases.Semantic proximity Read ↗

Four novel RSK2 mutations in females with Coffin-Lowry syndrome.Semantic proximity Read ↗

Terminal deletion of chromosome 10q: clinical features and literature review.Semantic proximity Read ↗

Identification of novel mutations in the RSK2 gene (RPS6KA3) in patients with Coffin-Lowry syndrome.Semantic proximity Read ↗

X-linked Coffin-Lowry syndrome (CLS, MIM 303600, RPS6KA3 gene, protein product known under various names: pp90(rsk2), RSK2, ISPK, MAPKAP1).Semantic proximity Read ↗

Dedicator of cytokinesis 8 is disrupted in two patients with mental retardation and developmental disabilities.Semantic proximity Read ↗

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