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

Linkage of otopalatodigital syndrome type 2 (OPD2) to distal Xq28: evidence for allelism with OPD1.

American journal of human genetics - 1 Jul 2001

Robertson S P, Walsh S, Oldridge M, Gunn T, Becroft D, Wilkie A O

Abstract excerpt

Otopalatodigital syndrome type 1 (OPD1) is an X-linked semidominant condition characterized by malformations of the skeleton, auditory apparatus, and palate. Previous studies have established linkage to a 16-cM region of Xq27-q28. A proposed allelic variant of OPD1, termed "OPD2," is associated with a more severe, frequently lethal phenotype with visceral and brain anomalies in addition to skeletal, auditory, and...

Topics

Abnormalities, Multiple
Alleles
Brain
Chromosome Mapping
Chromosome Segregation
Craniofacial Abnormalities
Dosage Compensation, Genetic
Female
Genetic Linkage
Genetic Predisposition to Disease

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Haplotypes

Heterozygote

Humans

Lod Score

Male

Mutation

Palate

Pedigree

Source

Open in PubMed Open full text

Identifiers

PMID: 11398100
DOI: 10.1086/321280
PMCID: PMC1226038

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-11398100-2026-08-29.1. 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 · 12 closest

Linkage of otopalatodigital syndrome type 2 (OPD2) to distal Xq28: evidence for allelism with OPD1.PMID 11398100Read ↗

Phenotype Analysis in Two Families With Otopalatodigital Syndrome Spectrum Disorder Based on FLNA Gene Variants.Semantic proximity Read ↗

The oral-facial-digital syndrome type 1 (OFD1), a cause of polycystic kidney disease and associated malformations, maps to Xp22.2-Xp22.3Semantic proximity Read ↗

Localization of the syndactyly type II (synpolydactyly) locus to 2q31 region and identification of tight linkage to HOXD8 intragenic markerSemantic proximity Read ↗

A novel phenotypic pattern in X-linked inheritance: craniofrontonasal syndrome maps to Xp22.Semantic proximity Read ↗

Discordance of oral-facial-digital syndrome type 1 in monozygotic twin girls.Semantic proximity Read ↗

Regional selection acting on the OFD1 gene family.Semantic proximity Read ↗

Genome‐wide linkage scan of nonsyndromic orofacial clefting in 91 families of central European originSemantic proximity Read ↗

A novel X-linked dominant condition: X-linked congenital isolated ptosis.Semantic proximity Read ↗

Genome analysis and the human X chromosome.Semantic proximity Read ↗

The Otto Aufranc Award: Identification of a 4 Mb region on chromosome 17q21 linked to developmental dysplasia of the hip in one 18-member, multigeneration family.Semantic proximity Read ↗

X-linked recessive panhypopituitarism associated with a regional duplication in Xq25-q26.Semantic proximity Read ↗

Autosomal dominant postaxial polydactyly, nail dystrophy, and dental abnormalities map to chromosome 4p16, in the region containing the Ellis-van Creveld syndrome locus.Semantic proximity Read ↗

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