Bloom syndrome for which second chromosomal analysis led to early diagnosis.

Yoshida, Mai; Tomobe, Yutaro; Tomotaki, Seiichi; Niwa, Fusako; Kawai, Masahiko

Yoshida, Mai; Tomobe, Yutaro; Tomotaki, Seiichi; Niwa, Fusako; Kawai, Masahiko.

Afiliación

Yoshida M; Department of Pediatrics, Graduate School of Medicine, Kyoto University, Kyoto, Japan.
Tomobe Y; Department of Pediatrics, Graduate School of Medicine, Kyoto University, Kyoto, Japan.
Tomotaki S; Department of Pediatrics, Graduate School of Medicine, Kyoto University, Kyoto, Japan.
Niwa F; Department of Pediatrics, Graduate School of Medicine, Kyoto University, Kyoto, Japan.
Kawai M; Department of Pediatrics, Graduate School of Medicine, Kyoto University, Kyoto, Japan.

Pediatr Int ; 64(1): e15020, 2022 Jan.

Article en En | MEDLINE | ID: mdl-35278254

Asunto(s)

Síndrome de Bloom; Síndrome de Bloom/diagnóstico; Síndrome de Bloom/genética; Diagnóstico Precoz; Femenino; Humanos; Cariotipificación; Embarazo; Diagnóstico Prenatal

Palabras clave

Bloom syndrome; amniotic fluid; chromosomal abnormality; extremely low birth weight; growth restriction

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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Síndrome de Bloom Tipo de estudio: Diagnostic_studies / Screening_studies Límite: Female / Humans / Pregnancy Idioma: En Revista: Pediatr Int Asunto de la revista: PEDIATRIA Año: 2022 Tipo del documento: Article País de afiliación: Japón Pais de publicación: Australia

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