The 2q23.1 microdeletion syndrome: clinical and behavioural phenotype

2q31.1 microdeletion syndrome: redefining the associated clinical phenotype.

INTRODUCTION The clinical phenotype of the chromosome 2q31 deletion syndrome consists of limb anomalies ranging from monodactylous ectrodactyly, brachydactyly and syndactyly to camptodactyly. Additional internal organ anomalies-for example, heart defects, ocular anomalies-may be present. Hemizygosity for HOXD13 and EVX2 genes was thought to cause the observed skeletal defects. Recently, based o...

The behavioural phenotype of Angelman syndrome.

BACKGROUND The purpose of this review is to examine the notion of a behavioural phenotype for Angelman syndrome and identify methodological and conceptual influences on the accepted presentation. METHODS Studies examining the behavioural characteristics associated with Angelman syndrome are reviewed and methodology is described. RESULTS Potential bias in the description of the phenotype eme...

Clinical and molecular delineation of the 17q21.31 microdeletion syndrome.

BACKGROUND The chromosome 17q21.31 microdeletion syndrome is a novel genomic disorder that has originally been identified using high resolution genome analyses in patients with unexplained mental retardation. AIM We report the molecular and/or clinical characterisation of 22 individuals with the 17q21.31 microdeletion syndrome. RESULTS We estimate the prevalence of the syndrome to be 1 in 1...

Further clinical and molecular delineation of the 15q24 microdeletion syndrome

BACKGROUND Chromosome 15q24 microdeletion syndrome is a rare genomic disorder characterised by intellectual disability, growth retardation, unusual facial morphology and other anomalies. To date, 20 patients have been reported; 18 have had detailed breakpoint analysis. AIM To further delineate the features of the 15q24 microdeletion syndrome, the clinical and molecular characterisation of fif...

Behavioural phenotype of Bardet-Biedl syndrome.