Table 2 Details of the repeating region of the break point of the X chromosome
From: A case report: Marfan syndrome with X trisomy and FBN1 and SDHB mutations
Chromosomal region | CNV type | Fragment size (bp) | Chromosomal location | Contains major genes |
|---|---|---|---|---|
Xp22.33-Xq28 | Duplication (CNV = 3) | 155,072,003 | chrX: 60,500 -155,132,503 | ABCB7, ABCD1, ACE2, ACOT9, ACSL4,ACTRT1,ADGRG2, ADGRG4,AFF2,AGTR2 etc. including 1154 genes |