Chromosome 22q11 fluorescence in situ hybridisation (FISH) studies were performed on 33 consecutive individuals attending a paediatric cardiology clinic with tetralogy of Fallot. Seven children had 22q11 microdeletions but only four had other clinical features associated with the newly recognised chromosome 22 deletion syndrome (CATCH 22). Chromosome 22q11 FISH studies should therefore be perfo...

BACKGROUND Autism spectrum disorder (ASD) is characterised by impairments in social communication and by a pattern of repetitive behaviours, with learning disability (LD) typically seen in up to 70% of cases. A recent study using the PPL statistical framework identified a novel region of genetic linkage on chromosome 16q21 that is limited to ASD families with LD. METHODS In this study, two fa...

PURPOSE Testicular sperm extraction (TESE) for intracytoplasmic sperm injection (ICSI) was first introduced for the treatment of non-obstructive azoospermia. This study was conducted to detect predictive factors affecting the success of microTESE. MATERIALS AND METHODS We retrospectively evaluated the results of 191 cases who underwent microTESE. For each patient, the testicular volume, endoc...

Chromosome 17p13.3 is a region of genomic instability that is linked to different rare neurodevelopmental genetic diseases, depending on whether a deletion or duplication of the region has occurred. Chromosome microdeletions within 17p13.3 can result in either isolated lissencephaly sequence (ILS) or Miller-Dieker syndrome (MDS). Both conditions are associated with a smooth cerebral cortex, or ...

BACKGROUND Microdeletions of 2q23.1 disrupting MBD5 and loss of function mutations of MBD5 cause MBD5-Associated Neurodevelopmental disorders (MAND). Nearly all reported patients have been isolated cases of de novo origin. METHODS This study investigates three families with inherited MBD5 mutations from three different Regional Genetics Centres in the UK. RESULTS Two of the parents in the s...