A Case of Holoprosencephaly Associated with Chromosomal Deletion Diagnosed by Prenatal Ultreasound / 대한주산의학회잡지
Korean Journal of Perinatology
; : 434-439, 1998.
Article
em Ko
| WPRIM
| ID: wpr-195726
Biblioteca responsável:
WPRO
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.
Palavras-chave
Texto completo:
1
Índice:
WPRIM
Assunto principal:
Braço
/
Cromossomos Humanos Par 7
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Holoprosencefalia
/
Ultrassonografia
/
Fenda Labial
/
Fissura Palatina
/
Prosencéfalo
/
Hipertrofia
Tipo de estudo:
Diagnostic_studies
Limite:
Adult
/
Female
/
Humans
/
Pregnancy
Idioma:
Ko
Revista:
Korean Journal of Perinatology
Ano de publicação:
1998
Tipo de documento:
Article