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In a recent issue of the journal, Concolino et al1 describe a patient with severe growth retardation and a ring chromosome 4, in which a 760 kb deletion within the terminal 4p16.3 region was detected by array comparative genomic hybridisation (CGH).
Severe growth delay is one of the most striking features in Wolf–Hirschhorn syndrome (WHS), a multiple congenital anomalies/mental retardation condition caused by partial 4p deletion. The association of growth delay, the typical “Greek warrior helmet” profile, mental retardation and seizures defines the core WHS phenotype. All these signs are related to haploinsufficiency of genes residing within the terminal 1.9 Mb region on 4p16.3.2 Precise …
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