Table 1.

Comparison between Read Count Analysis of RHP and Karyotypic Findings

Sample	del(20q)	del(7q)/7-	8+	i(17)/17q-	4+	i(X)	10+	21+	9+	19+	12+	del(11q)	Karyotype
1	Y	Y											46,XY,del(20)(q11.2)[8]/45,XY,-7,del(20)[10]/46,XY[2]
2	Y	Y											45,XY,-7,del(20)(q11.2)[cp17]/46,XY[3]
3			Y										47,XY,+8[20]
4		Y		Y									45,XY,-7[7]/46,XY,i(17)(q10{4]46,XY[cp9]
5		Y											45,XY,-7[14]/45,idem,?r(6)(p22q27)[6]
6			Y										47,X,-Y,del(6)(q15q21),+8,+14[17]/47,idem,t(1;9)(q23;q34)[3]
7	Y												46,XY,del(20)(q11.2)[cp18]/45,idem,-7[1]/46,XY[1]
8				Y									46,XY,i(17)(q10)[cp20]
9			Y										47,XY,+8,t(15;17)(q24;q21)[18]/46,XY[2]
10			Y				Y						48,XY,+8,+10[cp20]
11			Y		Y								48,XX,+4,+8[17]/46,XX[3]
12		Y						Y					45,XY,-7[8]/46,XY,-7,+21[cp12]
13		Y											46,XX,del(7)(q22q36)[17]//46,XY[3]
14		Y											45,XY,i(7)(q10),del(12)(p12),-15[7]/46,XY[13]
15	N								Y				47,XX,+9,del(20)(q11.2)[5]
16								Y					47,XX,+21[20]
17										Y			47,XY,t(1;17)(q42;q25),+19[20]
18		Y											46,XX,del(7)(q21q31),t(15;17)(q24;q21)[cp18]/46,XX[2]
19								Y					47,XY,+21[20]
20			Y										47,XX,+8[20]
21							Y						47,XX,+10[17]/46,XX[cp3]
22		Y											46,XY,r(7)(p2?2?q11.2)[6]/46,XY[14]
23		Y											45,XY,-7[19]/46,XY,t(17;22)(q21;q13)[1]
24						Y							47,XY,+i(X)(q10)[20]
25			Y										47,XX,+8[cp4]/46,XX[7]
26											Y		47,XX,+12[2]/46,XX[7]
27		Y											45,XY,-7[6]/46,XY[10]
28		Y											45,XX,-7[19]/46,XX[1]
29												Y	46,XY,del(11)(q13q23)[14]/46,XY[6]
30				Y									45,X,-X,del(6)(q21),add(16)(p13),del(17)(p11.2)[cp8]
31												Y	46,XX,del(11)(q13q23)[cp15]/46,XX[5]
32		Y											45,XX,add(3)(q26.2),-7[20]
33	Y												46,XY,del(20)(q11.2)[3]/46,XY[12]
34						Y							47,XY,+i(X)(q10)[20]
Count	5	13	7	3	1	2	2	3	1	1	1	2

Del, deletion; i, isochromosome; N, no; RHP, rapid heme panel; Y, yes.