Familial 17q12 Deletion Syndrome Case Report: Clinical and Molecular Characterization

A familial case report of 17q12 recurrent deletion syndrome from Russia includes a female patient with diabetes and her daughter with atypical autism. The report provides a comparative analysis of molecular genetic features and clinical variability, including comparisons to MODY5 and other 17q12 genetic alterations. This document, authored by Yaroslav V. Dvoryanchikov and shared under CC-BY-4.0, adds to the limited data on this orphan condition.

Use Cases

• Study intrafamilial variability of clinical manifestations based on the described mother-daughter case.
• Compare disease presentation between 17q12 deletions and other genetic alterations like microduplications or HNF1B variants as mentioned in the description.
• Analyze the clinical and molecular overlap between 17q12 deletion syndrome and maturity-onset diabetes of the young type 5 (MODY5).

Strengths

• Provides detailed clinical, laboratory, and instrumental findings for a rare familial case.
• Includes a comparative evaluation with classical MODY5 and other genetic alterations affecting the 17q12 region.

Limitations

• Row count is unknown, which may limit suitability assessment.
• Column-level documentation is absent; field semantics must be inferred after download.
• The dataset is a single 44.9 KB document, representing a very limited scope.

Provenance

Source

Yaroslav V. Dvoryanchikov

Collection Method

Clinical case report and molecular genetic analysis.

Freshness

Last updated 2026-05-12 04:18:57; freshness should be verified.

Geography

Russia