A Case of Tetrasomy 12p Diagnosed Prenatally.
- Author:
Kyoung Soon LEE
1
;
So Young LEE
;
Hee Jeong PARK
;
Hyun Suk AN
;
Sook Ja PARK
;
Jin Yeong HAN
Author Information
1. Department of Obstetrics and Gynecology, *Department of Laboratory Medicine, Ilsin Christian Hospital, Busan, Korea.
- Publication Type:Case Report
- Keywords:
Tetrasomy 12p;
Pallister-Killian syndrome;
Mosaicism
- MeSH:
Aneuploidy;
Arm;
Chromosome Aberrations;
Chromosomes, Human, Pair 12;
Diagnosis;
Femur;
Hernia, Diaphragmatic;
Isochromosomes;
Karyotyping;
Lymphocytes;
Maternal Age;
Mosaicism;
Polyhydramnios;
Tetrasomy*;
Ultrasonography
- From:Korean Journal of Obstetrics and Gynecology
2004;47(5):1001-1005
- CountryRepublic of Korea
- Language:Korean
-
Abstract:
Tetrasomy for the short arm of chromosome 12 (Pallister-Killian syndrome) is an uncommon mosaic aneuploidy, which may present in the prenatal period with an ultrasonographically detected fetal abnormalities or following karyotyping for maternal age and other causes. In this syndrome the chromosome abnormalities, isochromosome is present in amniocyte with a much greater percentage than fetal lymphocyte. The most consistent reported prenatal ultrasound findings for tetrasomy 12p include polyhydramnios with short femurs and a diaphragmatic hernia. We report a case identified by prenatal karyotyping diagnosis.
