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See Latest ArticlesInterstitial deletion of 18q: Comparative genomic hybridization array analysis of 46, XX,del
Birth Defects Research, 10/09/09
Kato Z et al. – The deletion of the transcription factor 4 gene suggested a possible contribution of the deletion to the patient's facial abnormalities, as observed in Pitt–Hopkins syndrome. Together with other reported cases with interstitial deletion of 18q, a possible contribution of haploinsufficiency in both MBD1 and MBD2 genes to a Rett syndrome–like phenotype was suggested, but further genetic studies on other cases are necessary to clarify the genotype–phenotype correlation.
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