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Article

Definition of the blepharophimosis, ptosis, epicanthus inversus syndrome critical region at chromosome 3q23 based on the analysis of chromosomal anomalies.

Human molecular genetics - 1 May 1995

Lawson C T, Toomes C, Fryer A, Carette M J, Taylor G M, Fukushima Y, Dixon M J

Abstract excerpt

Blepharophimosis syndrome (BPES) is an autosomal dominant disorder of craniofacial development, the features of which are small palpebral fissures (blepharophimosis), drooping eyelids (ptosis) and a skin fold arising from the lower eyelid (epicanthus inversus). The chromosomal localization and identity of the BPES locus is not known with certainty. In the current paper, DNA samples from three individuals with a...

Topics

Abnormalities, Multiple
Base Sequence
Blepharophimosis
Blepharoptosis
Child, Preschool
Chromosome Deletion
Chromosome Mapping
Chromosomes, Human, Pair 3
DNA Primers
Eyelids

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Female

Genotype

Humans

Hybrid Cells

Male

Molecular Sequence Data

Pedigree

Polymerase Chain Reaction

Source

Identifiers

PMID: 7633459
DOI: 10.1093/hmg/4.5.963

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-7633459-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

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

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Definition of the blepharophimosis, ptosis, epicanthus inversus syndrome critical region at chromosome 3q23 based on the analysis of chromosomal anomalies.PMID 7633459Read ↗

Deletion 3q in two patients with blepharophimosis-ptosis-epicanthus inversus syndrome (BPES).Semantic proximity Read ↗

Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) associated with interstitial deletion of band 3q22: Review and gene assignment to the interface of band 3q22.3 and 3q23Semantic proximity Read ↗

Molecular Cytogenetic Evaluation in a Patient with a Translocation (3;21) Associated with Blepharophimosis, Ptosis, Epicanthus Inversus Syndrome (BPES)Semantic proximity Read ↗

[Phenotypic and genetic analysis of a child with blepharophimosis, ptosis, epicanthus inverses syndrome and tetralogy of Fallot].Semantic proximity Read ↗

Blepharophimosis sequence and diaphragmatic hernia associated with interstitial deletion of chromosome 3 (46,XY,del(3)(q21q23)).Semantic proximity Read ↗

Interstitial deletion of 14q24.3-q32.2 in a male patient with plagiocephaly, BPES features, developmental delay, and congenital heart defects.Semantic proximity Read ↗

Clinical, radiologic, and genetic features in blepharophimosis, ptosis, and epicanthus inversus syndrome in the Indian population.Semantic proximity Read ↗

Blepharophimosis, ptosis, epicanthus inversus syndrome, a new case associated with de novo balanced autosomal translocation [46,XY,t(3;7)(q23;q32)]Semantic proximity Read ↗

[Blepharophimosis-ptosis-epicanthus inversus syndrome].Semantic proximity Read ↗

Blepharophimosis, Ptosis, and Epicanthus Inversus Syndrome: Expanding the Phenotype.Semantic proximity Read ↗

Blepharophimosis-ptosis-epicanthus inversus syndrome (BPES).Semantic proximity Read ↗

Familial blepharophimosis-like syndrome with esotropia, uveal coloboma, and short stature.Semantic proximity Read ↗

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