Assisted Reproductive Techniques and Risk of Beckwith-Wiedemann Syndrome

[Beckwith-Wiedemann syndrome].

Beckwith-Wiedemann syndrome.

some llp15.3-.pter and monosomic for chromosome 5p15.3-.pter (karyotype 46,XY,der(5)t(5;ll)(pl5.3;pl5.3)pat). Paternally derived duplications of llpl5.5 are associated with Beckwith-Wiedemann syndrome (BWS) and both family members trisomic for llpl5.5 had prenatal overgrowth (birth weights >97th centile), macroglossia, coarse facial features, and broad hands. We review the clinical features of ...

A case report of beckwith-wiedemann syndrome

beckwith and wiedemann for the first time described a syndrome characterised by macroglossia,macrosomia and omphalocele.nowadays inaddition to the above symptoms,visceromegaly,mild microcephaly,facial nevus flammeus,earlobe cerase,persistent neonatal hypoglycemia,and polycythemia are also considered various manifestations of Beckwith-Wiedemann syndrome. This study report a female neonate with ...

Beckwith-Wiedemann syndrome and assisted reproduction technology (ART).

Beckwith-Wiedemann syndrome (BWS) is a model imprinting disorder resulting from mutations or epimutations affecting imprinted genes on chromosome 11p15.5. The classical clinical features of BWS are macroglossia, preand/or postnatal overgrowth, and anterior abdominal wall defects (umbilical hernia or exomphalos). Additional more variable features include hemihypertrophy, neonatal hypoglycaemia, ...

Beckwith-Wiedemann Syndrome