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.
BMC Med Genet
; 16: 74, 2015 Sep 01.
Article
in En
| MEDLINE
| ID: mdl-26323392
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.
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Growth Hormone
/
Chromosome Deletion
/
Cleft Palate
/
Chromosomes, Human, X
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Hearing Loss
/
Intellectual Disability
Type of study:
Prognostic_studies
Limits:
Adolescent
/
Humans
/
Male
Language:
En
Journal:
BMC Med Genet
Journal subject:
GENETICA MEDICA
Year:
2015
Document type:
Article
Affiliation country:
Italia