[15Q11.2 (BP1-BP2) microdeletion, a new syndrome with variable expressivity]
A Sempere Pérez1, I Manchón Trives, I Palazón Azorín
1Neuropediatría, Hospital General Universitario, Alicante, España.
Anales De Pediatria (Barcelona, Spain : 2003)
|March 23, 2011
Abstract:
The case of a boy with psychomotor retardation and dysmorphic features is presented. He has a 1.5 Mb 15q11.2 microdeletion of paternal origin diagnosed by aCGH. The deletion is located between breakpoints BP1 and BP2 of the Prader-Willi/Angelman syndromes critical region. Clinical features in our patient fit well with those described in ten cases of pure BP1-BP2 deletion published to date.
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