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BMC Med Genet. 2015 Sep 1;16:74. doi: 10.1186/s12881-015-0220-z.

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.

Author information

1
Laboratory of Genetics, Department of Health Sciences, University of Eastern Piedmont, Via Solaroli 17, 28100, Novara, Italy. giordano@med.unipmn.it.
2
Fondazione IRCCS Policlinico San Matteo, University of Pavia, Pavia, Italy. chiaragerto@live.it.
3
Department of Internal Medicine and Therapeutics, University of Pavia, Fondazione IRCCS Policlinico San Matteo, Pavia, Italy. s.pagani@smatteo.pv.it.
4
Department of Internal Medicine and Therapeutics, University of Pavia, Fondazione IRCCS Policlinico San Matteo, Pavia, Italy. c.meazza@smatteo.pv.it.
5
Laboratory of Genetics, Department of Health Sciences, University of Eastern Piedmont, Via Solaroli 17, 28100, Novara, Italy. ileana.fusco@med.unipmn.it.
6
Department of Pediatric Medicine, IRCCS Ospedale Pediatrico Bambino Gesù, Rome, Italy. elena.bozzola@opbg.net.
7
Department of Internal Medicine and Therapeutics, University of Pavia, Fondazione IRCCS Policlinico San Matteo, Pavia, Italy. mauro.bozzola@unipv.it.

Abstract

BACKGROUND:

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).

CONCLUSION:

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.

PMID:
26323392
PMCID:
PMC4593198
DOI:
10.1186/s12881-015-0220-z
[Indexed for MEDLINE]
Free PMC Article

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