Utility of breakpoint-specific nested polymerase chain reaction for the diagnosis of Emanuel syndrome.

Hayakawa, Kozue; Kawase, Koya; Fujimoto, Masanori; Nakamura, Yuji; Saitoh, Shinji

Hayakawa, Kozue; Kawase, Koya; Fujimoto, Masanori; Nakamura, Yuji; Saitoh, Shinji.

Afiliación

Hayakawa K; Department of Pediatrics, Daido Hospital, Nagoya, Aichi, Japan.
Kawase K; Department of Pediatrics and Neonatology, Nagoya City University Graduate School of Medical Sciences, Nagoya, Aichi, Japan.
Fujimoto M; Department of Pediatrics and Neonatology, Nagoya City University Graduate School of Medical Sciences, Nagoya, Aichi, Japan.
Nakamura Y; Department of Pediatrics and Neonatology, Nagoya City University Graduate School of Medical Sciences, Nagoya, Aichi, Japan.
Saitoh S; Department of Pediatrics and Neonatology, Nagoya City University Graduate School of Medical Sciences, Nagoya, Aichi, Japan.

Pediatr Int ; 63(12): 1534-1536, 2021 Dec.

Article en En | MEDLINE | ID: mdl-34449117

Asunto(s)

Trastornos de los Cromosomas; Discapacidad Intelectual; Fisura del Paladar; Cardiopatías Congénitas; Humanos; Hipotonía Muscular; Reacción en Cadena de la Polimerasa

Palabras clave

Emanuel syndrome; chromosome breakpoint; micropenis; nested-PCR; small supernumerary marker chromosome

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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Trastornos de los Cromosomas / Discapacidad Intelectual Tipo de estudio: Diagnostic_studies Límite: Humans Idioma: En Revista: Pediatr Int Asunto de la revista: PEDIATRIA Año: 2021 Tipo del documento: Article País de afiliación: Japón

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