A Case of Multicystic Renal Dysplasia with Chromosomal Abnormality / 대한주산의학회잡지
Korean Journal of Perinatology
;
: 56-60, 1999.
Artigo
em 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:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Braço
/
Cromossomos Humanos Par 7
/
Holoprosencefalia
/
Aberrações Cromossômicas
/
Ultrassonografia
/
Fenda Labial
/
Fissura Palatina
/
Prosencéfalo
/
Rim Displásico Multicístico
/
Hipertrofia
Tipo de estudo:
Estudo diagnóstico
Limite:
Adulto
/
Feminino
/
Humanos
/
Gravidez
Idioma:
Coreano
Revista:
Korean Journal of Perinatology
Ano de publicação:
1999
Tipo de documento:
Artigo
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