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Revista de la Asociación Médica del Centro Médico ABC

2002, Number 3

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An Med Asoc Med Hosp ABC 2002; 47 (3)

Angelman's syndrome: Early diagnosis

Frenkel-Salamón M, Villarreal-López-Guerra G, Hirsch-Mogyoros R, Cornú-Gómez ML

Language: Spanish
References: 27
Page: 171-174
PDF size: 59.16 Kb.


ABSTRACT

The Angelman's Syndrome is a rare genetic disease caused by a chromosomic alteration of the 15q11-13, characterized fundamentally by severe mental delay, microcephaly, paroxysmal laughter, epilepsy, lack of speech, as well as motor and balance problems. The diagnosis is usually suspected between 3-7 years of age. We present the case of a male infant that displays hyperactivity, fluttering movements of extremities, inadequate suction, developmental delay, hypotonia and frequent smiling. The chromosomal fluorescence in situ hybridization (FISH) and DNA methylation analysis showed a 15 chromosome long arm deletion in bands 11-13. Early diagnosis is important because individualized treatment modalities can be initiated promptly and appropriate genetic counseling be offered.


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