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Article

Microdeletion of 9q22.3: A patient with minimal deletion size associated with a severe phenotype.

American journal of medical genetics. Part A - 1 Jul 2021

Ewing Adam D, Cheetham Seth W, McGill James J, Sharkey Michael, Walker Rick, West Jennifer A, West Malcolm J, Summers Kim M

Abstract excerpt

Basal cell nevus syndrome (also known as Gorlin Syndrome; MIM109400) is an autosomal dominant disorder characterized by recurrent pathological features such as basal cell carcinomas and odontogenic keratocysts as well as skeletal abnormalities. Most affected individuals have point mutations or small insertions or deletions within the PTCH1 gene on human chromosome 9, but there are some cases with more extensive...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 33960642
DOI: 10.1002/ajmg.a.62224
PMCID: PMC8251932

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026.

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Microdeletion of 9q22.3: A patient with minimal deletion size associated with a severe phenotype.PMID 33960642Read ↗

Microdeletion 9q22.3 syndrome includes metopic craniosynostosis, hydrocephalus, macrosomia, and developmental delaySemantic proximity Read ↗

Delineation of an interstitial 9q22 deletion in basal cell nevus syndromeSemantic proximity Read ↗

Gorlin-like phenotype in a patient with a PTCH2 variant of uncertain significance.Semantic proximity Read ↗

Gorlin syndrome patient with large deletion in 9q22.32-q22.33 detected by quantitative multiplex fluorescent PCR.Semantic proximity Read ↗

[Nevoid basal cell carcinoma syndrome with corpus callosum agenesis, PTCH1 mutation and absence of basal cell carcinoma].Semantic proximity Read ↗

Germline PTCH1: c.361_362insAlu alteration identified by comprehensive exome and RNA sequencing in a patient with Gorlin syndrome.Semantic proximity Read ↗

Targeted exome sequencing and chromosomal microarray for the molecular diagnosis of nevoid basal cell carcinoma syndrome.Semantic proximity Read ↗

Multiple tumor types including leiomyoma and Wilms tumor in a patient with Gorlin syndrome due to 9q22.3 microdeletion encompassing the PTCH1 and FANC-C loci.Semantic proximity Read ↗

Involvement of patched (PTCH) gene in Gorlin syndrome and related disorders: three family cases.Semantic proximity Read ↗

Familial 9q22.3 microduplication spanning PTCH1 causes short stature syndrome with mild intellectual disability and dysmorphic features.Semantic proximity Read ↗

Wilms' tumor in patients with 9q22.3 microdeletion syndrome suggests a role for PTCH1 in nephroblastomas.Semantic proximity Read ↗

Germline PTCH1 mutations in Japanese basal cell nevus syndrome patients.Semantic proximity Read ↗

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