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

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 comparati...

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Bibliographic Details
Published in:Pediatrics international 2015-06, Vol.57 (3), p.486-491
Main Authors: Jurkiewicz, Dorota, Kugaudo, Monika, Tańska, Anna, Wawrzkiewicz‐Witkowska, Angelika, Tomaszewska, Agnieszka, Kucharczyk, Marzena, Cieślikowska, Agata, Ciara, Elżbieta, Krajewska‐Walasek, Małgorzata
Format: Article
Language:English
Subjects:
11p15 duplication
13q34 deletion
Abnormalities, Multiple
Adult
Babies
Beckwith-Wiedemann Syndrome - diagnosis
Beckwith-Wiedemann Syndrome - genetics
Beckwith–Wiedemann syndrome
Birth defects
Chromosome Deletion
Chromosome Disorders - diagnosis
Chromosome Disorders - genetics
Chromosomes, Human, Pair 11 - genetics
Chromosomes, Human, Pair 13 - genetics
factor VII deficiency
Factor VII Deficiency - diagnosis
Factor VII Deficiency - genetics
Female
Humans
Infant
Multiplex Polymerase Chain Reaction
Pediatrics
unbalanced chromosomal translocation
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Summary: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.
ISSN:1328-8067
1442-200X
DOI:10.1111/ped.12611