Comprehensive analysis on phenotype and genetic basis of Chinese Fanconi anemia patients: dismal outcomes call for nationwide studies

Table 2 Bone marrow morphology, karyotype, chromosome breakage tests, and ALDH2 genotypes

Case No.	BM morphology	BM karyotype	Chromosome breakage test	ALDH2 genotype
1	Dysplasia	NA	Positive	G/A
2	Dysplasia	47,XY,+ 15[1]/46,XY[20]	Positive	G/A
3	Hypoplasia	normal	Positive	G/A
4	NA	NA	Positive	G/G
5^a	AML	46,XX,der(7)t(1;7)(q21;q36)[20]	Positive	G/G
6	Hypoplasia	Normal	Positive	G/A
7	Dysplasia	46,XY,-7,+ 21[5]/46,XY[16]	Positive	G/G
8	Hypoplasia	Normal	Positive	G/G
9	Hypoplasia	Normal	Positive	G/A
10^b	MDS	Complex	Positive	G/G
11	Hypoplasia	Normal	Positive	G/A
12	Dysplasia	Normal	Positive	G/G
13	Dysplasia	Normal	Positive	G/G
14	Dysplasia	Normal	Positive	G/A
15	Dysplasia	46,XY,del(7)(p13)[13]/46,XY[7]	Positive	G/A
16	Hypoplasia	Normal	Positive	G/A
17	Dysplasia	Normal	Positive	G/A
18	Dysplasia	46,XX,t(1;5)(p36.1;q13)[1]/46,XX[19]	Positive	G/G
19	Dysplasia	46,XX,del(14)(q24)[1]/46,XX[20]	Positive	G/G
20	Dysplasia	46,XX,del(7)(q22)[8]/46,XX,del(5)(p11)/46,XX[19]	Positive	G/A
21	Hypoplasia	Normal	Positive	G/A

Chromosome breakage tests were induced by mitomycin C
NA not available, AML acute myeloid leukemia, MDS myelodysplastic syndrome
^aCase 5 is diagnosed as acute myeloid leukemia. The myeloblasts count 41% of the nucleated cells according to morphologic test of bone marrow smears
^bCase 10 is diagnosed as myelodysplastic syndrome. His bone marrow morphology shows dysplasia was observed in his granulocytic lineage and megakaryocytic lineage with the myeloblasts count 6% of the nucleated cells. The result of his karyotype is:46,XY,dup(1)(q21q23),add(2)(p11.2),add(3)(q27),der(5)t(1;5)(q21;q35),add(20)(p12)[17]/45,XY,der(1)(?::1q42- > 1q21::1p36.3- > 1q32::1q21- > 1q44::?),add(2)(p11.2),add(3)(q27),add(4)(p16),der(5)t(1;5)(q21;q35),-18,add(20)(p12),ace [2]/46,XY [1]

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