Prenatally Diagnosed Uncommon Mosaic Autosomal Trisomy.
- Author:
Bom Yi LEE
1
;
So Yeon PARK
;
Moon Hee LEE
;
Jin Woo KIM
;
Ju Yeon PARK
;
Eun Young CHOI
;
Yeon Woo LEE
;
Ah Rum OH
;
Shin Young LEE
;
Min Hyung KIM
;
Hyun Mee RYU
Author Information
1. Laboratory of Medical Genetics, Cheil General Hospital and Women's Healthcare Center, Kwandong University College of Medicine, Seoul, Korea. hmryu@yahoo.com
- Publication Type:Case Report
- Keywords:
Autosomal mosaicism;
Trisomy 5;
Trisomy 16;
Trisomy 20
- MeSH:
Amniocentesis;
Aorta;
Autopsy;
Chromosomes, Human, Pair 13;
Chromosomes, Human, Pair 16;
Chromosomes, Human, Pair 20;
Fetal Blood;
Fetal Heart;
Fetus;
Fibroblasts;
Genetic Counseling;
Heart Septal Defects, Ventricular;
Karyotype;
Metaphase;
Mosaicism;
Prenatal Diagnosis;
Sex Chromosomes;
Skin;
Trisomy
- From:Journal of Genetic Medicine
2009;6(1):95-99
- CountryRepublic of Korea
- Language:English
-
Abstract:
Prenatal diagnosis of rare autosome mosaicism involvingchromosomes other than chromosome 13, 18, 21 or the sex chromosome is encountered prognostic dilemma during genetic counseling. We report four cases of level III uncommon mosaicism of trisomy 5, 16 and 20,diagnosed prenatally. In case 1 with mosaic trisomy 20, there was a higher mosaic ratio of trisomy 20 in the repeat amniocentesis (62.1%) than in the first (36.6%) with normal fetal ultrasound finding except for a relatively small aorta on a 3-vessel view of the fetal heart. Case 2 showed a low rate of mosaic trisomy 20 (5.25%) in cultured amniocytes but normal karyotype in the repeat amniocentesis, who delivered a normal healthy baby. Case 3 showed a 13.6% of trisomy 16 mosaicism in the 30 cells of cultured amniocytes. Sixty cells from a fetal blood sample at termination showed non-mosaic 46,XX normal karyotype, while skin fibroblasts had 22.5% trisomy 16 in 40 metaphases. The autopsy showed ventricular septal defect (VSD). Case 4 with low grade mosaicism (10.5%) of trisomy 5 resulted in elective termination, though the ultrasoumd showed growsly normal fetus. Although level III mosaicism is regarded as true mosaicism, it is difficult to predict the outcome of the fetus with rare mosaic autosome trisomy. Therefore mosaic autosome trisomy of fetus should be carefully interpreted with more various approaches including repeat sampling and targeted fetal ultrasound.
