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Related Experiment Video

Updated: Feb 6, 2026

Mutagenesis and Analysis of Genetic Mutations in the GC-rich KISS1 Receptor Sequence Identified in Humans with Reproductive Disorders

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Published on: September 4, 2011

22q11.2 Microduplication: An Enigmatic Genetic Disorder.

Ranjit I Kylat¹

¹Division of Neonatal-Perinatal Medicine and Developmental Biology, Department of Pediatrics, University of Arizona, Tucson, Arizona, United States.

Journal of Pediatric Genetics

|August 15, 2018

Summary

Microduplication of chromosome 22q11.2, a rare genetic condition, can present with variable symptoms. This case highlights severe micrognathia, cleft palate, and Pierre-Robin sequence, emphasizing diagnostic challenges.

Keywords:

22q11.2 microdeletion 22q11.2 microduplication Pierre-Robin sequence cleft palate micrognathia

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Area of Science:

Genetics
Human Genetics
Clinical Genetics

Background:

Microduplication of 22q11.2 is a rare chromosomal abnormality.
The condition's incidence may be underestimated due to subtle or absent clinical signs.
Phenotypic presentation in diagnosed cases is highly variable.

Observation:

A prenatal ultrasound identified severe micrognathia.
Microarray analysis of amniotic fluid revealed 22q11.2 microduplication.
Postnatal confirmation of the genetic finding was obtained.

Findings:

The described case presented with a severe constellation of micrognathia, cleft palate, and Pierre-Robin sequence.
While micrognathia is a known feature, this specific combination of findings is novel.
This case underscores the extreme variability of 22q11.2 microduplication phenotypes.

Implications:

Accurate prenatal diagnosis of 22q11.2 microduplication is crucial for managing affected infants.
Recognizing the diverse clinical spectrum aids in earlier diagnosis and intervention.
Further research is needed to understand the genotype-phenotype correlations in 22q11.2 duplications.