Article
Chromosomal abnormalities resembling Joubert syndrome: two cases illustrating the diagnostic pitfalls.
Clinical dysmorphology - 1 Jul 2011
Kroes Hester Y, Hochstenbach Ron, Nievelstein Rutger A J, Den Hollander Anneke I, Lugtenberg Dorien T, Van Nieuwenhuizen Onno, Lindhout Dick, Poot Martin
Abstract excerpt
We describe two patients with severe developmental delay, hypotonia and breathing abnormalities initially diagnosed with the autosomal recessive Joubert syndrome (JBS) who at a later stage appeared to carry chromosomal abnormalities. One case was due to a 4.8 Mb terminal 1q44 deletion, and the other due to a 15.5 Mb duplication of Xq27.2-qter containing the MECP2 gene. Critical evaluation of the clinical data...
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