Stickler syndrome is an autosomal dominant disorder with characteristic ophthalmological and orofacial features, deafness, and arthritis. Abnormalities of vitreous gel architecture are a pathognomonic ...

Bardet-Biedl syndrome (BBS) is an autosomal recessive condition characterised by rod-cone dystrophy, postaxial polydactyly, central obesity, mental retardation, hypogonadism, and renal dysfunction.

Wolf-Hirschhorn syndrome is a multiple malformation syndrome with distinct abnormal craniofacial features, prenatal onset growth retardation, failure to thrive, microcephaly, usually severe mental ...

Objectives: To describe the clinical findings and natural history in 22 carriers of an R460H mutation in the transforming growth factor β receptor 2 gene (TGFβR2) from a five-generation kindred ...

Objective: To describe the systematic analysis of constitutional de novo apparently balanced translocations in patients presenting with abnormal phenotypes, characterise the structural chromosome ...

Introduction CNV is a vital pathogenic factor of congenital heart disease (CHD). However, few CNVs have been reported for total anomalous pulmonary venous connection (TAPVC), which is a rare form of ...

A 13-year-old girl presented because of abnormal pubertal development. She was found to have an isochromosome of 22 in addition to a normal female chromosome complement. Investigation also showed ...

Among the clusters of imprinted genes in humans, one of the most relevant regions involved in human growth is localised in 11p15. Opposite epigenetic and genomic disturbances in this chromosomal ...

Editor—Silver-Russell syndrome (SRS) is characterised by severe intrauterine growth retardation (IUGR), postnatal short stature, asymmetry of the face, body, and limbs, short and incurved fifth ...

Neurofibromatosis 2 (NF2), an autosomal dominant disorder that is characterised by tumours of cells of neural crest origin, is caused by inactivating mutations of the NF2 gene on chromosome 22q12.1,2 ...

Background The 11p15 region contains two clusters of imprinted genes. Opposite genetic and epigenetic anomalies of this region result in two distinct growth disturbance syndromes: Beckwith-Wiedemann ...