Case Report: Maternally Inherited 22q11.2 Microduplication with Severe Ear Malformations

A PDF case report describes a unique instance of maternally inherited 22q11.2 microduplication syndrome presenting with severe unilateral ear malformations. The report details a 2.7 Mb atypical duplication identified via chromosomal microarray analysis and multiplex ligation-dependent probe amplification, with clinical findings including microtia, aural atresia, and pulmonary stenosis, alongside exceptional neurodevelopmental outcomes. The 6.2 MB document was authored by figshare admin karger and last updated on April 20, 2026.

Use Cases

• Study genotype-phenotype correlations for 22q11.2 microduplications based on the detailed clinical and genetic findings described.
• Investigate the role of dosage-sensitive genes like IL17RA, CECR2, and SLC25A18 in craniofacial development based on the genetic analysis presented.
• Analyze phenotypic variability and reduced penetrance in genomic disorders based on the case of inheritance from a phenotypically normal mother.
• Research associations between specific chromosomal regions and severe ear malformations like microtia and aural atresia based on the case presentation.

Strengths

• Includes specific genetic details: a 2.7 Mb atypical proximal 22q11.1-q11.21 duplication involving a 0.7 Mb LCR22A–LCR22B region.
• Provides comprehensive clinical metrics: Marx Grade III microtia, complete aural atresia, mild pulmonary stenosis, and a Full Scale IQ of 135 at 36 months.
• Document is under a permissive CC-BY-4.0 license, facilitating reuse and sharing.

Limitations

• Row count is unknown, which may limit suitability assessment for quantitative analysis.
• Column-level documentation is absent; field semantics must be inferred after download.
• The dataset is a single case report PDF (6.2 MB), representing a very small sample size of n=1.

Provenance

Source

figshare admin karger

Collection Method

Clinical case report based on chromosomal microarray analysis and multiplex ligation-dependent probe amplification.

Time Range

Case evaluation up to 36 months of age for the patient.

Freshness

Last updated 2026-04-20 05:55:16; freshness should be verified.

Geography

Geography is unknown.