TY - JOUR
T1 - 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
AU - Giordano, M.
AU - Gertosio, C.
AU - Pagani, S.
AU - Meazza, C.
AU - Fusco, I.
AU - Bozzola, E.
AU - Bozzola, M.
N1 - Publisher Copyright:
© 2015 Giordano et al.
PY - 2015/9/1
Y1 - 2015/9/1
N2 - 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.
AB - 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.
KW - Intellectual disability
KW - Pituitary hormone deficiency
KW - Short stature
KW - Xq21.1 deletion
UR - http://www.scopus.com/inward/record.url?scp=84940537789&partnerID=8YFLogxK
U2 - 10.1186/s12881-015-0220-z
DO - 10.1186/s12881-015-0220-z
M3 - Article
SN - 1755-8794
VL - 16
JO - BMC Medical Genetics
JF - BMC Medical Genetics
IS - 1
M1 - 74
ER -