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Table 4 C-banding or AgNOR-staining applied to the auxiliary diagnosis of 4 cases with chromosome abnormal

From: C-banding and AgNOR-staining were still effective complementary methods to indentify chromosomal heteromorphisms and some structural abnormalities in prenatal diagnosis

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
  1. Abbreviations: F Fetus, P Pregnant woman, H Husband of pregnant woman