منابع مشابه
Beckwith–Wiedemann syndrome and Wilms’ tumour
Patients with rare overgrowth disorders, such as Beckwith–Wiedemann syndrome and Simpson–Golabi– Behmel syndrome, are predisposed to embryonal tumours, including Wilms’ tumour of the kidney. Therefore, these disorders offer a link between hyperplastic growth and cancer. Genetic lesions at chromosome 11p15 have been associated with Beckwith–Wiedemann syndrome and Wilms’ tumour for several years ...
متن کاملMechanisms causing imprinting defects in familial Beckwith-Wiedemann syndrome with Wilms' tumour.
The imprinted expression of the IGF2 and H19 genes is controlled by the Imprinting Centre 1 (IC1) at chromosome 11p15.5. This is a methylation-sensitive chromatin insulator that works by binding the zinc-finger protein CTCF in a parent-specific manner. Microdeletions abolishing some of the CTCF target sites (CTSs) of IC1 have been associated with the Beckwith-Wiedemann syndrome (BWS). However, ...
متن کاملDifferent mechanisms cause imprinting defects at the IGF2/H19 locus in Beckwith-Wiedemann syndrome and Wilms' tumour.
The parent of origin-dependent expression of the IGF2 and H19 genes is controlled by the imprinting centre 1 (IC1) consisting in a methylation-sensitive chromatin insulator. Deletions removing part of IC1 have been found in patients affected by the overgrowth- and tumour-associated Beckwith-Wiedemann syndrome (BWS). These mutations result in the hypermethylation of the remaining IC1 region, los...
متن کاملHypoglycaemia with Wilms' Tumour.
Hypoglycaemia occurring in association with certain extrapancreatic tumours, mesodermal in type and mostly malignant, has become a well-established entity of organic hypoglycaemia. Conn and Seltzer (1955), in a review of spontaneous hypoglycaemia, added this group to the well-known causes of organic hypoglycaemia, namely, pancreatic, hepatic, anterior pituitary, adrenocortical and central nervo...
متن کاملAntenatally Diagnosed Wilms’ Tumour
Wilms' tumour (WT) is seldom seen in a neonate and prenatal diagnosis is rare. We present a case of antenatally diagnosed left sided WT with features of hydrops foetalis in a girl baby. Emergency LSCS was done at 34 weeks of gestation for foetal distress. Patient required mechanical ventilation for birth asphyxia and congestive cardiac failure. After stabilization, gross total resection of the ...
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ژورنال
عنوان ژورنال: Molecular Human Reproduction
سال: 1997
ISSN: 1460-2407
DOI: 10.1093/molehr/3.2.157