7 research outputs found
Evaluation of ChromoQuant in vitro diagnostic test kits (versions 1 and 2) for analysis of aneuploidy
No full textReference reagents for genetic testing: development of mutation detection controls by NGRL (Wessex)
No full textDetection of chromosomal aneuploidy by paralogous gene quantification using the Pyrosequencing PSQ 96MA System
No full textDetection and estimation of heteroplasmy for mitochondrial mutations using NanoChip and Pyrosequencing technology
No full text
Analysis of both the H19 and KCNQ1OT1 DMRs in Beckwith-Wiedemann Syndrome using two newly developed methylation specific PCRs
No full textEpimutation of the TNDM locus and the Beckwith-Wiedemann syndrome centromeric locus in individuals with transient neonatal diabetes mellitus
No full textTransient neonatal diabetes mellitus (TNDM) is characterised by intra-uterine growth retardation, while Beckwith–Wiedemann syndrome (BWS) is a clinically heterogeneous overgrowth syndrome. Both TNDM and BWS may be caused by aberrant loss of methylation (LOM) at imprinted loci on chromosomes 6q24 and 11p15.5 respectively. Here we describe two patients with a clinical diagnosis of TNDM caused by LOM at the maternally methylated imprinted domain on 6q24; in addition, these patients had LOM at the centromeric differentially methylated region of 11p15.5. This shows that imprinting anomalies can affect more than one imprinted locus and may alter the clinical presentation of imprinted disease
