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Table 4 Chromosome abnormalities in karyotyping and SNP-array analysis

From: Clinical features and genetic analysis of Dandy-Walker syndrome

 

Karyotype

SNP-array

Case1

46,Xn,der(8)(8pter-8q24::12p10-12qter),i(12)(p10)

arr [hg19]12p13.3p11.1 (173786–34,835,641)*3,15q11.2)(2,770,421–23,276,605)*1

Case2

Trisomy 18

arr [hg19]18p11.32q23(136227–78,013,728)*3

Case3

47,Xn,+Mar

arr [hg19]7p22.3p15.3 (43376–22,353,054) × 3

arr [hg19]14q11.2q21.1 (20516277–40,785,508) × 3

Case4

69,XXX

arr [hg19](1–22,X)*3

Case5

Normal

arr [hg19]7p22.2p21.2 (3720000–15,180,000)*3

Case6

46,Xn,t(10;21)(p10;q10)

Normal

Case7

46,Xn,t(7;8)(p21;q43)

Normal

Case8–22

Normal

Normal