A balanced reciprocal translocation in a case of hypomelanosis of Ito with confirmation of mosaicism using buccal cell interphase FISH.
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Child↗
Biomedical subjects
W T Keng
Publications and source records attributed to W T Keng.
A3243G mitochondrial mutation associated with polymicrogyria.
The mitochondrial transfer ribonucleic acid for leucine is encoded by nucleotides 3230-3304. A-to-G transition at nucleotide 3243 can cause maternally transmitted diabetes mellitus-deafness syndrome, and MELAS syndrome. MELAS syndrome is a rare disorder of mitochondrial energy production, and is an acronym for myopathy, encephalopathy, lactic acidosis, and stroke-like episodes. Cortical malformations are heterogeneous and result from abnormal cell proliferation/apoptosis, migration, and/or differentiation of neuroepithelial cells. They are an important and relatively common cause of intractable epilepsy and neurodevelopmental disorders. The association between these A3243G mutations and cortical malformation has never before been reported. Here a 14-year-old female with A3243G mutation and polymicrogyria is described and possible aetiologies of this association are discussed.
Adolescent↗
Food aversion and facial dysmorphism--a newly described syndrome?
We report three children with food aversion and characteristic facial dysmorphism, long digits and genitourinary abnormality. Interrogation of the London Dysmorphology Database suggests that this is a previously unreported syndrome.
Abnormalities, Multiple↗