Thaddeus W Kurczynski

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BACKGROUND Deletion and the reciprocal duplication in 16p11.2 were recently associated with autism and developmental delay. METHOD We indentified 27 deletions and 18 duplications of 16p11.2 were identified in 0.6% of all samples submitted for clinical array-CGH (comparative genomic hybridisation) analysis. Detailed molecular and phenotypic(More)
We have studied seven patients who have chromosome 22q13.3 deletions as revealed by high-resolution cytogenetic analysis. Clinical evaluation of the patients revealed a common phenotype that includes generalized developmental delay, normal or accelerated growth, hypotonia, severe delays in expressive speech, and mild facial dysmorphic features. Dosage(More)
Rett syndrome (RTT) has been described in its classic form only in females. Although the majority of cases are sporadic, familial cases give valuable insight into the genetic basis and phenotypic variability of the disorder. The exclusive occurrence of classic Rett syndrome in females led to the hypothesis that the Rett syndrome locus is likely to be(More)
We performed molecular, enzyme, and metabolic studies in 50 patients with D-2-hydroxyglutaric aciduria (D-2-HGA) who accumulated D-2-hydroxyglutarate (D-2-HG) in physiological fluids. Presumed pathogenic mutations were detected in 24 of 50 patients in the D-2-hydroxyglutarate dehydrogenase (D2HGDH) gene, which encodes D-2-hydroxyglutarate dehydrogenase(More)
Findings in the muscle biopsies from 2 patients with Rett syndrome are presented. Routine light microscopy and muscle histochemistry were unremarkable. Electron microscopy revealed mitochondrial alterations, including distention, vacuolation, and membranous changes. The results suggest the possibility of a mitochondrial defect in Rett syndrome.
Generalized anhidrosis with heat collapse, painful fingers, and angiokeratomas were the presenting signs in a 23-year-old man who was shown by enzyme studies and electron microscopy to have Fabry disease. His 6-year-old brother had the early diagnostic findings of episodic painful fingers, heat intolerance, and retroauricular telangiectasia. Both had an(More)
A case of Pena-Shokeir syndrome type I was diagnosed prenatally with ultrasonography and magnetic resonance imaging (MRI) in a woman with a possible previous occurrence. Initial ultrasonographic examination at 18.5 weeks' gestation demonstrated an unusual appearance of the fetal spine in an otherwise unremarkable fetus. However, subsequent sonographic(More)
Early diagnosis and improved treatment are leading to the potential for increased reproductive capability in homocystinuria due to cystathionine β-synthase (CβS) deficiency, but information about reproductive outcome and risk of thromboembolism in pregnancy is limited. To provide further information, clinical and biochemical information was obtained on(More)