A Case of Holoprosencephaly Associated with Chromosomal Deletion Diagnosed by Prenatal Ultreasound.
- Author:
Jae Cheol SIM
;
Cheol Seong BAE
;
Hyeo Won YOON
;
Dong Hoon KIM
;
Hoe Saeng YANG
;
Tae Hyung PARK
;
Jong Ho KIM
;
Seok Chul CHOI
- Publication Type:Case Report
- Keywords:
Holoprosencephaly;
Deletion of chromosome 7q;
Cleft palate;
Cleft lip
- MeSH:
Adult;
Arm;
Chromosomes, Human, Pair 7;
Cleft Lip;
Cleft Palate;
Female;
Holoprosencephaly*;
Humans;
Hypertrophy;
Pregnancy;
Prosencephalon;
Ultrasonography
- From:Korean Journal of Perinatology
1998;9(4):434-439
- CountryRepublic of Korea
- Language:Korean
-
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.
