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Case Reports
. 2005 Mar;164(3):154-7.
doi: 10.1007/s00431-004-1583-x. Epub 2004 Nov 19.

Macrocephalic mental retardation associated with a novel C-terminal MECP2 frameshift deletion

Konrad Oexle  1 , Barbara Thamm-Mücke, Thomas Mayer, Sigrid Tinschert
Affiliations
Case Reports

Macrocephalic mental retardation associated with a novel C-terminal MECP2 frameshift deletion

Konrad Oexle et al. Eur J Pediatr. 2005 Mar.

Abstract

We report a novel C-terminal MECP2 frameshift deletion (1135_1142delCCCGTG CC) in a 19-year-old woman with mental retardation and epilepsy. Preservation of language capabilities, purposeful hand use and sufficient locomotion implied an atypical variant of Rett syndrome (OMIM 312750). Occipito-frontal head circumference was large at birth (36 cm; SDS 1.7) and increased until adulthood (58.5 cm; SDS 2.3).

Conclusion: Our observation indicates that head size and head growth are of limited reliability in the diagnosis of MECP2-associated phenotypes.

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References

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