Details

Autor(en) / Beteiligte

• Jurkiewicz, Dorota
• Kugaudo, Monika
• Tańska, Anna
• Wawrzkiewicz‐Witkowska, Angelika
• Tomaszewska, Agnieszka
• Kucharczyk, Marzena
• Cieślikowska, Agata
• Ciara, Elżbieta
• Krajewska‐Walasek, Małgorzata

Titel

11p15 duplication and 13q34 deletion with Beckwith–Wiedemann syndrome and factor VII deficiency

Ist Teil von

• Pediatrics international, 2015-06, Vol.57 (3), p.486-491

Ort / Verlag

Australia: Blackwell Publishing Ltd

Erscheinungsjahr

2015

Quelle

Wiley-Blackwell Journals

Beschreibungen/Notizen

• Here we report a patient with 11p15.4p15.5 duplication and 13q34 deletion presenting with Beckwith–Wiedemann syndrome (BWS) and moderate deficiency of factor VII (FVII). The duplication was initially diagnosed on methylation‐sensitive multiplex ligation‐dependent probe amplification. Array comparative genome hybridization confirmed its presence and indicated a 13q34 distal deletion. The patient's clinical symptoms, including developmental delay and facial dysmorphism, were typical of BWS with paternal 11p15 trisomy. Partial 13q monosomy in this patient is associated with moderate deficiency of FVII and may also overlap with a few symptoms of paternal 11p15 trisomy such as developmental delay and some facial features. To our knowledge this is the first report of 11p15.4p15.5 duplication associated with deletion of 13q34 and FVII deficiency. Moreover, this report emphasizes the importance of detailed clinical as well as molecular examinations in patients with BWS features and developmental delay.