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Am J Med Genet A. 2011 Dec;155A(12):3144-7. doi: 10.1002/ajmg.a.34311. Epub 2011 Nov 3.

A novel Xp22.11 deletion causing a syndrome of craniosynostosis and periventricular nodular heterotopia.

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Department of Paediatrics and Child Health, Dunedin School of Medicine, Otago University, Dunedin, New Zealand.


We report on a follow-up evaluation of a male with a phenotype including craniosynostosis, periventricular nodular heterotopia, and neurodevelopmental delay. He was initially assigned a clinical diagnosis of Fontaine-Farriaux syndrome (FFS) as an infant although now, with improved delineation of this entity, it is evident that this diagnosis is not applicable to this individual. Array comparative genomic hybridization has demonstrated a 300‚ÄČ kb interstitial deletion on Xp22.11 affecting all or part of three annotated genes, ZFX, PDK3, and PCYT1B in this subject. The deletion was inherited from the phenotypically normal mother who also exhibited markedly skewed X-inactivation. These findings implicate hemizygosity for one or all three of these genes as the cause of this phenotype.

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