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1.
Pacing Clin Electrophysiol ; 24(1): 122-4, 2001 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-11227958

RESUMEN

A 17-year-old boy with frequent faints due to blood-injury phobia was studied. During cardiovascular reflex investigation in our syncope unit, 50 seconds of asystole were recorded. He was treated using systematic desensitization with muscular tension and cognitive techniques by the Pediatric Psychosocial Department and has not experienced syncopal events again.


Asunto(s)
Terapia Cognitivo-Conductual , Desensibilización Psicológica , Flebotomía/psicología , Trastornos Fóbicos/terapia , Síncope Vasovagal/psicología , Adolescente , Electrocardiografía , Humanos , Masculino , Síncope Vasovagal/terapia
2.
Am J Med Genet A ; 124A(3): 288-91, 2004 Jan 30.
Artículo en Inglés | MEDLINE | ID: mdl-14708102

RESUMEN

We report on monozygotic (MZ) twins with a de novo mos 46,XX,der(15)t(11;15)(p12;p11.2)/46,XX karyotype varying in different tissues. The clinical presentation and findings at the cytogenetic level are described. One of the infants had definite minor anomalies at birth, also found in other cases of trisomy of 11p resembling the Beckwith-Wiedemann syndrome. Theoretical backgrounds regarding the string of events leading to the cytogenetic findings in these twins and the various factors that might have contributed to the dissimilarities in phenotype between these twins are discussed.


Asunto(s)
Trastornos de los Cromosomas/genética , Cromosomas Humanos Par 11/genética , Trisomía , Gemelos Monocigóticos/genética , Bandeo Cromosómico , Trastornos de los Cromosomas/patología , Femenino , Humanos , Hibridación Fluorescente in Situ , Recién Nacido , Cariotipificación , Mosaicismo , Fenotipo
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