EC Paediatrics

Beckwith-Wiedemann syndrome (BWS) is characterized by neonatal hypoglycemia, macrosomia, macroglossia, omphalocele, visceromegaly and ear creases.

We presented a case of a female newborn with phenotype of BWS.

The prenatal diagnosis showed normal karyotype. The postnatal high resolution band karyotype confirmed the diagnosis with change in the chromosome 11. The father and paternal grandfather showed equilibrated translocation of terminal part of short arm of chromosome 3 and 11.

The reason why the karyotype was normal is because during the amniocentesis, the high resolution band is more difficult to obtain in culture and normally this technique is not use. To avoid repeat this situation in the next pregnancy, we need to do FISH of chromosome 11 to exclude BWS. The risk of recurrence is 50%.

Keywords: Beckwith-Wiedemann Syndrome; Amniocentesis; FISH

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