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3q29 microdeletion syndrome: Cognitive and behavioral phenotype in four patients

Santina Città1, Serafino Buono, Donatella Greco

  • 1Unit of Psychology, IRCCS Associazione Oasi Maria Santissima, Troina, Italy.

American Journal of Medical Genetics. Part A
|November 12, 2013
PubMed

Insights

The 3q29 microdeletion syndrome presents with intellectual disability and varied behavioral issues. Communicative skills are often preserved, offering a key diagnostic insight for this rare genomic disorder.

Area of Science:

  • Genetics
  • Neuroscience
  • Developmental Biology

Background:

  • 3q29 microdeletion syndrome is a rare genomic disorder.
  • It is associated with a variable phenotype including neurodevelopmental features like intellectual disability (ID), schizophrenia, autism, bipolar disorder, and depression.
  • A comprehensive neuropsychiatric evaluation has not been previously reported for this syndrome.

Purpose of the Study:

  • To analyze the clinical phenotype of four individuals with 3q29 microdeletion syndrome.
  • To emphasize cognitive and behavioral assessments.
  • To delineate the neuropsychiatric phenotype associated with 3q29 microdeletion syndrome.

Main Methods:

  • Phenotypic analysis of four individuals with 3q29 microdeletion syndrome.
  • Cognitive assessment using WISC III or LIPS-R.
  • Behavioral assessment using CBCL.
  • Adaptive functioning assessment using VABS.

Main Results:

  • Variable degrees of intellectual disability (ID) were observed.
  • Diverse behavioral disorders were identified.
  • Preservation of communicative skills was noted within adaptive functioning.

Conclusions:

  • The neuropsychiatric hallmark of 3q29 microdeletion syndrome includes varying ID and behavioral disorders.
  • Communicative skills appear relatively preserved.
  • This study provides a detailed neuropsychiatric profile for 3q29 microdeletion syndrome.
Keywords:
3q29 microdeletion syndromebehavioral phenotypecognitive phenotype

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