Skip to main content

Table 1 Detailed clinical information of our twelve cases with 5p- syndrome

From: Prenatal diagnosis of cri-du-chat syndrome by SNP array: report of twelve cases and review of the literature

Index

Maternal age (years)

Gestation (w + d)

G-band

Snp array results

Ultrasound finding

Inheritance

1

26

23 + 1

46,XX,del(5)(p13)

arr [hg19] 5p15.33p13.3 (38,139-30,536,972)× 1

(NIPT at 13 weeks: high risk for 5p-), Cerebellar hypoplasia

 

2

27

24 + 2

46,XY,del(5)(p14)

arr [hg19] 5p15.33p14.3 (464,153-23,132,422)×1

Dysgenesis of the cerebellar vermis

 

3

43

16 + 6

46,XY,del(5)(p15)

arr [hg19] 5p15.33p15.1 (38,139-17,981,307)× 1

Choroid plexus cyst

 

4

26

22

46,XX,del(5)(p15)

arr [hg19] 5p15.33p15.31 (38,139-9,782,775)×1

Abnormal maternal serum screening (increased β-HCG)

 

5

30

22 + 6

46,XX,del(5)(p14)

arr [hg19] 5p15.33p14.3 (38,139-19,508,190)× 1

Cystic adenomatoid malformation of the lung

de novo

6

31

21 + 1

46,XX,del(5)(p14)

arr [hg19] 5p14.3p15.33 (1,151,161-20,687,905)× 1

NF:6.8 mm

De novo

7

35

13 + 2

NA

arr [hg19] 5p15.33p14.3 (38,139-22,612,407)×1,13q31.2q34 (89,736,965-115,106,996)×3

Hydrops fetalis, NT:8.7 mm

 

8

27

29 + 0

NA

arr [hg19] 5p15.33p15.1 (354,051-17,484,038)×1,5q34q35.3 (165,731,079-180,705,539)×3

VSD, NF:9 mm, abnormality of lateral ventricle

 

9

37

23 + 5

NA

arr [hg19] 5p15.33p15.1 (560,476-17,910,453)×1, 8q24.12q24.3(119,864,143-146,293,086)× 3

Cerebellar hypoplasia

 

10

21

14 + 5

46,XX, der(5)t(5;18)(p15.2;q11.2)

arr [hg19] 5p15.33p15.2 (38,139-10,702,034)× 1,18q11.2q23(19,178,726-78,014,582)× 3

NT:5.5 mm, abnormal heart valve morphology, absent of the nasal bone

paternal 46,XY, t(5,18)(p15.1,q11.2)

11

27

18

46,XY,der(5)t(5;7)(p15;q21)

arr [hg19] 5p15.33p15.2 (38,139-12,392,815)× 1, 7q21.11q36.3 (83,599,335-159,119,486)× 3.

SUA, DLV, talipes equinovarus, abnormality of the cerebral ventricles

 

12

26

21 + 2

46,XX,der(5)t(5,18)(p15.2,q12.3)

arr [hg19] 5p15.33p15.2 (560,476-14,855,659)×1, 18q12.3q23(43,354,452-78,014,582)×3.

CLP, VSD, NF:6.5 mm, (NIPT: high risk for T18)

 
  1. w Weeks, d Days, NA Not analysis, NT/NF Nuchal translucency/nuchal fold thickness, VSD Ventricular septal defect, SUA Single umbilical artery, DLV Dilation of lateral ventricles, CLP Cleft lip and palate, β-HCG Beta-human chorionic gonadotropin.