Table 4 C-banding or AgNOR-staining applied to the auxiliary diagnosis of 4 cases with chromosome abnormal
Case No. | Brief clinical information | Chromosome karyotype | SNP-array/CNV-seq | Pregnancy outcome |
|---|---|---|---|---|
Case#1 | 42-year-old, G5P1,amniocentesis at 19 weeks’ gestation because of advanced age | F:46,XN,inv(1)(p12q24)mat P: 46,XX,inv(1)(p12q24) H:46,XY | F::arr [hg19] 2q13(110,498,141_110,980,295)x4, 12p12.1 (23,797,551_24,076,457)x1 P: arr [hg19] 2q13(110,498,141_110,980,295)x4 H: arr(1-22)x2,(XN)x1 | continued pregnancy |
Case#2 | 25-year-old, G5P1,amniocentesis at 18 weeks’ gestation because of a positive serological screening result (a high risk of Down syndrome 1:176) | F:45,XY,der(4)dup(4)(p15.1p16) psu dic(4;17)(p16.3;p13.3),-17 P:46,XX H:46,XY | F:arr [hg19] 2q12.3q13(107,586,661_110,980,295)x3, 4p16.3p15.1 (68,345_32,437,069)x3 | induced abortion |
Case#3 | 35-year-old, G4P1,puncture of umbilical vein at 26 weeks’ gestation because of advanced age and ultrasonic anomalies (coarctation of the aorta? long bone dysplasias). | F:45,X [31]/46,X,r(X)(p11;q21) [29] P:46,XX H:46,XY | F:seq[GRCh37]del(X)(p22.33p11.3),del(X)(q21.31q28) ChrX:g.60001_43660000del, 0710001_155260000del | induced abortion |
Case#4 | 37-year-old, G2P1,amniocentesis at 19 weeks’ gestation because of advanced age | F:47,XN,+mar [37]/46,XN[63] P:46,XX H:46,XY | F:arr(1-22)x2,(XN)x1 | continued pregnancy |