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Table 2 Genetic findings and outcome of 18 pregnancies complicated by Wolf-Hirschhorn syndrome

From: Prenatal sonographic findings in confirmed cases of Wolf-Hirschhorn syndrome

Case

Fetal karyotype

GA at delivery

Outcome

Fetal weight at birth

[g](percentile)

Fetal HC at birth

[cm](percentile)

1

46,XY, del(4)(p15.2 or p15.3).ish 4(p16.3p16.3)dn(WHS-)

19 + 0

TOP

n/a

n/a

2

46,XX, del(4)(p16).ish del(4)(p16.3)(WHS-)

n/a

TOP

n/a

n/a

3

46,XX, del(4)(p15.3)

n/A

TOP

n/a

n/a

4

46,XX, del(4)(p16)

25 + 3

TOP

510 (8.)

21 (9.)

5

46,XX, del(4)(p15.3)

33 + 3

TOP

1385 (4.)

24. (< 3.)

6

46,XX, r(4)(p16.3 q35.1–35.2)

32 + 0

TOP

600 (< 3.)

20 (< 3.)

7

46,XY, del(4)(15.22)

28 + 2

TOP

800 (10.)

23 (4.)

8

46,XY, ish del(4)(p16.3p16.3)(WHSC1-)

25 + 6

TOP

607 (9.)

21 (4.)

9

46,XX, del(4)(p15.3)

30 + 5

TOP

1110 (13.)

26 (10.)

10

46,XY, der(4),t(4;7)(p16.3;q36)pat

37 + 5

Live-borna

1759 (< 3.)

31 (< 3.)

11

46,XX, del(4)(p15.32)

28 + 1

TOP

750 (12.)

23 (8.)

12

46,XX, del(4)(p15.2)

25 + 4

TOP

495 (6.)

n/a

13

46,XX, der(4)t(4;13)(p16.1;q14.3)dn

24 + 6

TOP

n/a

n/a

14

46,XY, der(4)t(4;7)(p15.2;q32)mat

20 + 0

IUD

n/a

n/a

15

46,XX, der(4)t(4;17)(p15.2;q24.3)mat

24 + 3

TOP

n/a

n/a

16

46,XX, der(4)t(4;22)(p16.2;q13.31)pat

20 + 2

TOP

n/a

n/a

17

46,XX, del(4)(p.15.2)

29 + 4

TOP

990 (17.)

24 (5.)

18

46,XX, del(4)(p15.?3).ish del(4)(p16.3)(WHSC1-,D4S3360-)

38 + 4

Live-born

2180 (< 3.)

31 (< 3.)

  1. Abbreviations (in alphabetical order): GA gestational age, HC head circumference, n/a not available, TOP termination of pregnancy;
  2. a palliative care after birth due to unfavorable prognosis, died shortly after birth; Father: carrier of a balanced translocation: 46, XY, t(4;7)(p16.3;q36)