Familial deletion of 22q11.2

G Rodríguez Criado¹, J Gruesomontero, A Delicado Navarro

¹Unidad de Dismorfología, Hospital Infantil Virgen del Rocío, Sevilla, Spain.

Genetic Counseling (Geneva, Switzerland)

|November 5, 1999

Summary

This study highlights clinical heterogeneity in 22q.11.2 deletion syndrome. A mother and son with this genetic deletion show different symptoms, including schizophrenia and developmental delays.

Area of Science:

Genetics
Pediatrics
Psychiatry

Background:

22q.11.2 deletion syndrome is a common genetic disorder.
It is associated with a wide range of clinical manifestations.
Clinical heterogeneity can complicate diagnosis and management.

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