A Case of Multicystic Renal Dysplasia with Chromosomal Abnormality / 대한주산의학회잡지
Korean Journal of Perinatology
;
: 56-60, 1999.
Article
in Korean
| 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.
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Arm
/
Chromosomes, Human, Pair 7
/
Holoprosencephaly
/
Chromosome Aberrations
/
Ultrasonography
/
Cleft Lip
/
Cleft Palate
/
Prosencephalon
/
Multicystic Dysplastic Kidney
/
Hypertrophy
Type of study:
Diagnostic study
Limits:
Adult
/
Female
/
Humans
/
Pregnancy
Language:
Korean
Journal:
Korean Journal of Perinatology
Year:
1999
Type:
Article
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