A Case of Multicystic Renal Dysplasia with Chromosomal Abnormality / 대한주산의학회잡지
Korean Journal of Perinatology
;
: 56-60, 1999.
Artículo
en Coreano
| WPRIM
| ID: wpr-14808
ABSTRACT
Holoprosencephaly is a rare and complex malformation affecting the cleavage of the developing forebrain and is usually associated with defects of the mid Face. We have experienced a case of holoprosencephaly, diagnosed prenatally by ultrasound examination at 31 weeks of pregnancy in a 31-year-old primigravida woman. This case is characterized by holoprosencephaly, cleft palate, cleft lip, left renal aplasia and right renal hypertrophy. The chromosomal study showed a deletion of the long arm of chromosome 7, 46, XX, del(7)(q32), We report with a terminal deletion of chromosome 7q associated with atypical clinical picture and holoprosencephaly.
Texto completo:
Disponible
Índice:
WPRIM (Pacífico Occidental)
Asunto principal:
Brazo
/
Cromosomas Humanos Par 7
/
Holoprosencefalia
/
Aberraciones Cromosómicas
/
Ultrasonografía
/
Labio Leporino
/
Fisura del Paladar
/
Prosencéfalo
/
Riñón Displástico Multiquístico
/
Hipertrofia
Tipo de estudio:
Estudio diagnóstico
Límite:
Adulto
/
Femenino
/
Humanos
/
Embarazo
Idioma:
Coreano
Revista:
Korean Journal of Perinatology
Año:
1999
Tipo del documento:
Artículo
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