Psychomotor development of children born after preimplantation genetic diagnosis and parental stress evaluation.

Background: The increasing number of children conceived following preimplantation genetic diagnosis (PGD) necessitates the evaluation of their motor and cognitive development. The primary study objective was to evaluate the physical, developmental, and neurological outcome of children born after PGD in Greece. In addition, the secondary study objective was to compare the stress levels regarding parental roles between parents of PGD children and those of naturally conceived children.

Rhabdomyosarcoma in a patient with Noonan syndrome phenotype and review of the literature.

An increased risk of different types of malignancy has been reported in patients with Noonan syndrome (NS). We describe a patient with short stature, dysmorphic features, developmental delay, and congenital cardiomyopathy. At 5 years old, he presented with abdominal pain, constipation, and evaluation with ultrasound and computed tomography scan demonstrated the presence of an abdominal mass.

Array-CGH analysis and clinical description of 2q37.3 de novo subtelomeric deletion.

We report on a 13-year-old girl with normal karyotype and a de novo cryptic terminal deletion of chromosome 2q, detected by subtelomeric FISH analysis. Further investigation with array-CGH analysis using the 1Mb resolution Spectral Chip 2600 (Spectral Genomics) confirmed the deletion and also showed a deletion of four additional clones. No other abnormalities were detected by array-CGH.

Infective endocarditis in an adult patient with CHARGE association: a case report.

A case of an adult patient with CHARGE association complicated with infective endocarditis is presented.