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1 Program in Developmental Biology, the Hospital for Sick Children, Toronto, Canada 2 Western Sydney Genetics Program, the Royal Alexandra Hospital for Children, Sydney, and Discipline of Paediatrics ...

Background The genomic contribution to adverse health sequelae in babies born very preterm (<32 weeks’ gestation) is unknown. We conducted an investigation of rare CNVs in infants born very preterm as ...

Department of Medical Genetics, Cambridge Institute for Medical Research, Wellcome/MRC Building, Addenbrooke’s Hospital, Hills Road, Cambridge CB2 2XY, UK Huntington’s disease (HD) is thought to show ...

We report the dysmorphological, genetic, and speech therapy aspects of 38 cases of velocardiofacial syndrome presenting to a craniofacial clinic and a specialised children's hospital, to indicate a ...

Long-read sequencing for detection and subtyping of Prader-Willi and Angelman syndromes ...

12 NIH Intramural Sequencing Center, National Human Genome Research Institute, NIH, Bethesda, Maryland, USA Correspondence to Dr Andrea Poretti, Section of Pediatric Neuroradiology, Division of ...

The brachydactylies are a group of conditions in which various subtypes have been defined based upon the specific pattern of digital bones involved. Type A1 brachydactyly is principally characterised ...

Background: Deletions of chromosome 19 have rarely been reported, with the exception of some patients with deletion 19q13.2 and Blackfan–Diamond syndrome due to haploinsufficiency of the RPS19 gene.

Two sibs affected by the severe neonatal form of spinal muscular atrophy (SMA) with diaphragmatic paralysis are described. The two sibs were discordant for the haplotypes determined by DNA markers ...

Unité de Recherches sur les Handicaps Génétiques de l'Enfant, INSERM U-393, IFREM, Institut Necker, Hôpital des Enfants-Malades, Paris, France. Spinal muscular atrophy (SMA) is characterised by ...

In recent years, subtelomeric rearrangements have been identified as a major cause of mental retardation and/or malformation syndromes. So far, over 2500 subjects with mental retardation have been ...