This report describes a retarded girl with strabismus, high arched palate, antimongoloid slant, low set ears, hearing loss, micrognathia, short neck, and an anteriorly displaced anus. She was found to ...

Background Human de novo single-nucleotide variation (SNV) rate is estimated to range between 0.82–1.70×10−8 mutations per base per generation. However, contribution of early postzygotic mutations to ...

Background: Nijmegen breakage syndrome (NBS) is an autosomal recessive chromosomal instability disorder with hypersensitivity to ionising radiation. The clinical phenotype is characterised by ...

Background Irish Travellers are an endogamous, nomadic, ethnic minority population mostly resident on the island of Ireland with smaller populations in Europe and the USA. High levels of consanguinity ...

In order to describe the neurological abnormalities and to identify the gene localisation, we re-evaluated a previously reported family with X linked mental retardation (XLMR). Reliable data were ...

A patient with a 46,XY chromosome constitution showed the following main characteristics: eunuchoidal body habitus, lack of secondary sexual development, normal female external genitalia with absence ...

Introduction. Recently, Chan et al provided evidence that the minor allele of rs11655505 (c.–2265C→T), located in the promoter region of BRCA1, has a protective effect on breast cancer risk in Chinese ...

Epilepsy is one of the most common and serious neurological disorders, with up to 60 million people affected worldwide.1 Juvenile myoclonic epilepsy (JME) is a common familial form that accounts for 5 ...

Introduction The clinical phenotype of the chromosome 2q31 deletion syndrome consists of limb anomalies ranging from monodactylous ectrodactyly, brachydactyly and syndactyly to camptodactyly.

Original research: Economic evaluation of personalised versus conventional risk assessment for women who have undergone testing for hereditary breast and ovarian cancer genes: a modelling study (10 ...

Prader-Willi syndrome (PWS) is a disorder comprising severe neonatal hypotonia, hypogonadism, gross obesity, short stature, small hands and feet, mental handicap, a characteristic facial appearance ...

Objective: To analyse the PEX1 gene, the most common cause for peroxisome biogenesis disorders (PBD), in a consecutive series of patients with Zellweger spectrum. Methods: Mutations were detected by ...