Neurodevelopmental variability in three young girls with a rare chromosomal disorder, 48, XXXX

  title={Neurodevelopmental variability in three young girls with a rare chromosomal disorder, 48, XXXX},
  author={Carole A Samango-Sprouse and Colleen Keen and Francie L Mitchell and Teresa Sadeghin and Andrea L Gropman},
  journal={American Journal of Medical Genetics Part A},
  pages={2251 - 2259}
Fourty eight, XXXX is a rare chromosomal aneuploidy associated with neurocognitive deficits, speech and language disorders and executive dysfunction but the scarcity and variability of reported cases limit our understanding of the 48, XXXX phenotype. To our knowledge, this is the first study to report on the neurodevelopmental profile of three young females with 48, XXXX. Patient 1 (age = 11.0), Patient 2 (age = 10.9), and Patient 3 (age = 6.4) were evaluated using comprehensive… Expand
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