Journal
EUROPEAN JOURNAL OF MEDICAL GENETICS
Volume 53, Issue 3, Pages 168-170Publisher
ELSEVIER SCIENCE BV
DOI: 10.1016/j.ejmg.2010.02.003
Keywords
Overgrowth syndrome; Delayed bone age
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Funding
- Ministero della Salute GSW/R
- Fondazione Telethon Funding Source: Custom
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We report a patient with mental retardation, epilepsy, overgrowth, delayed bone age, peculiar facial features, corpus callosum hypoplasia, enlarged cisterna magna and right cerebellar hypoplasia. Array-CGH analysis revealed the presence of a de novo 3.2 Mb interstitial deletion of the long arm of chromosome 7 involving bands q22.2eq22.3. The rearrangement includes 15 genes and encompasses a genomic region that represents a site of frequent loss of heterozygosity in myeloid malignancies. Four genes are implicated in the control of cell cycle: SRPK2, MLL5, RINT1 and LHFPL3. Haploinsufficiency of these genes might therefore be associated with overgrowth and could confer susceptibility to cancers or other tumours, so that attention to this possibility would be appropriate during regular medical review. In conclusion, array-CGH analysis should be performed in patients with overgrowth where the known causes have already been excluded, because some still unclassified overgrowth syndromes may be caused by subtle genomic imbalances. (C) 2010 Elsevier Masson SAS. All rights reserved.
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