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Table 1 Clinical features for the nine patients with rearrangements.

From: Subtelomeric study of 132 patients with mental retardation reveals 9 chromosomal anomalies and contributes to the delineation of submicroscopic deletions of 1pter, 2qter, 4pter, 5qter and 9qter

Case

Dysmorphic facial features

Other dysmorphic features/ abnormalities

OFC (cm)

BW (g)

GA (weeks)

1

Yes

Small hands and feet

31

2600

40

2

Yes

Anal atresia

-

2125

39

3

Yes

No

-

5500

41

4

Yes

Dwarfism

28.6

2500

40

5

Yes

No

-

-

-

6 a

Yes

Scoliosis

-

2900

40

6 b

Yes

Congenital dislocation of the hip

-

3470

40

7

Yes

Clubfoot, atrial septum defect, abundant head- and bodyhair

30.5

2770

42

8

Yes

Adducted and broad thumbs, thickened skin in sole of foots and palms

40

3995

40

  1. OFC, occiput frontal circumference; BW, birth weight; GA, gestational age