A 5.8 Mb interstitial deletion on chromosome Xq21.1 in a boy with intellectual disability, cleft palate, hearing impairment and combined growth hormone deficiency



Deletions of the long arm of chromosome X in males are a rare cause of X-linked intellectual disability. Here we describe a patient with an interstitial deletion of the Xq21.1 chromosome.

Case presentation

In a 15 year boy, showing intellectual disability, short stature, hearing loss and dysmorphic facial features, a deletion at Xq21.1 was identified by array-CGH. This maternally inherited 5.8 Mb rearrangement encompasses 14 genes, including BRWD3 (involved in X-linked intellectual disability), TBX22 (a gene whose alterations have been related to the presence of cleft palate), POU3F4 (mutated in X-linked deafness) and ITM2A (a gene involved in cartilage development).


Correlation between the clinical findings and the function of gene mapping within the deleted region confirms the causative role of this microrearrangement in our patient and provides new insight into a gene possibly involved in short stature.


M. Giordano, C. Gertosio, S. Pagani, C. Meazza, I. Fusco, E. Bozzola, and M. Bozzola

  • Laboratory of Genetics, Department of Health Sciences, University of Eastern Piedmont, Via Solaroli 17, 2810 Novara, Italy
  • Fondiazione IRCCS Policlinico San Matteo, University of Pavia, Pavia, Italy
  • Department of Internal Medicine and Therapeutics, University o Pavia, Fondazione IRCCS Policlinico San Matteo, Pavia, Italy
  • Department of Pediatric Medicine, IRCCS Ospedale Pediatrico Bambino Gesù, Rome, Italy


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