Neurodevelopmental and associated changes in a patient with Xp22.31 duplication

  • Christine MacColl
  • Nina Stein
  • Mark Tarnopolsky
  • Jian-Qiang LuEmail author
Letter to the Editor

Dear Editor,

The Xp22.31 duplication is a copy number variant which clinicopathological significance remains unclear. Although the pathogenicity of Xp22.31 duplication is debatable [1, 2], the patients with Xp22.31 duplication generally present with cognitive and behavioral phenotypes [3, 4]. Seizures are also seen in some patients with Xp22.31 duplication, but the pathological basis of seizures is unknown [3, 4, 5]. Here we report the first case of postmortem neuropathological examination which findings provide novel insight into the pathophysiology of phenotypes with Xp22.31 duplication.

The patient was a baby girl who was born at term to a 23-year-old mother after an uncomplicated pregnancy. The delivery was spontaneous, with no resuscitation required at birth. The baby was evaluated in the first month of life for bilateral clubfeet, microcephaly, hypotonia, and failure to thrive. Neurological examination at 6 weeks revealed no overt dysmorphic features or spinal abnormalities, but...



The present case report is dedicated to the memory of Dr. John Fernandes who was the primary pathologist contributing to this case report.

Compliance with ethical standards

Conflict of interest

Dr. Mark Tarnopolsky is the CEO of Exerkine Corporation and the company is working on therapies that target mitochondrial dysfunction; the remaining authors declare that they have no conflict of interest.


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Copyright information

© Fondazione Società Italiana di Neurologia 2019

Authors and Affiliations

  1. 1.Department of Pathology and Molecular MedicineMcMaster UniversityHamiltonCanada
  2. 2.Department of RadiologyMcMaster UniversityHamiltonCanada
  3. 3.Department of PediatricsMcMaster UniversityHamiltonCanada
  4. 4.Department of Medicine/NeurologyMcMaster UniversityHamiltonCanada
  5. 5.Neuropathology Section, Hamilton General HospitalMcMaster UniversityHamiltonCanada

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