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Table 1 Summary female fetuses with Xp22.31 deletions

From: Xp22.31 copy number variations in 87 fetuses: refined genotype–phenotype correlations by prenatal and postnatal follow-up

Number

Ultrasound findings

location of the CNV

Size

Protein-coding genes

Inheritance

Karyotye

Outcomes

birth with defects

Age at study (M)

Developmental disorders

1

Complex congenital heart disease

arr[GRCh37] Xp22.31(7819527_8432715) × 1

613 Kb

PNPLA4

NA

46, XX

TOP

2

/

arr[GRCh37]

Xp22.31(6444607_8135053) × 1

1.69 Mb

PNPLA4, PUDP, STS, VCX, VCX3A

NA

46, XX

Born

/

53

/

3

/

arr[GRCh37] Xp22.31(6802248_7686400) × 1

884 Kb

PUDP, STS

NA

46,XX

Born

/

47

/

4

/

arr[GRCh37] Xp22.31(6643421_7157128) × 1

514 Kb

PUDP, STS

NA

46, XX

Born

/

44

/

5

Ventricular septal defect

arr[GRCh37]

Xp22.31(6488784_8135053) × 1

1.65 Mb

PNPLA4, PUDP, STS, VCX

Inherited from mother

46, XX

Born

/

34

/

6

Cystic hygroma of the neck

arr[GRCh37]

Xp22.31(6456940_8135053) × 1

1.68 Mb

PNPLA4, PUDP, STS, VCX

NA

46, XX

TOP

7

Echogenic intracardiac focus

arr[GRCh37]

Xp22.31(6456940_8135053) × 1

1.68 Mb

PNPLA4, PUDP, STS, VCX

NA

46, XX

Born

/

8

/

8

/

arr[GRCh37]

Xp22.31(6456940_8135053) × 1

1.68 Mb

PNPLA4, PUDP, STS, VCX

NA

46, XX

Born

/

6

/

9

/

arr[GRCh37]

Xp22.31(6456940_8135053) × 1

1.68 Mb

PNPLA4, PUDP, STS, VCX

NA

46, XX

Born

/

3

/

  1. TOP Termination of pregnancy