Table 3 The clinical features of segment UPD(7q) mat

UPD region

D7S686 to qter

D7S2429 to qter

D7S663 to qter

D7S2429 to qter

chr7: 127,240,160-159,138,663

N = 6

chr7: 65,350,058-159,138,663 mos

Evaluation analysis

Microsatellite

Microsatellite

Microsatellite

Microsatellite

microsatellite

Array, microsatellite

gender

F

M

F

M

F

3F/2M

male

SGA

+

+

+

+

+

5/5

N

gestational age(weeks)

37.5

27

3 weeks before term

3 weeks before term

39

term

birth weight(g)

1510(−4.3SD)

600 (−3.5 SD)

2800 (−0.45SD)

2180 (−2.28 SD)

2410 (−2.74 SD)

1910

length(cm)

40 (−4.9SD)

N

46 (−1.16 SD)

45 (−1.97 SD)

44 (−3.7 SD)

N

head circumference

47 (0.2SD)

N

N

32 (−1.34 SD)

32 (− 2.77 SD)

N

age at evaluation(years)

1.35

33 months

5.3

1 4/12

3 2/12

6 7/12

weight(kg)

6.95

9.4 (−3.5 SD)

N

6.7 (−4.12 SD)

10.5 (BMI: 14.36)

9.5 (~ − 6SD)

height (cm)

71.5 (−2.9SD)

82 (−3.5 SD)

99.5 (−2.86SD)

73 (−3.60 SD)

85.5 (SD −3.09)

91.9 (~ − 6 SD)

feeding difficulties

–

–

+

–

+

2/5

–

relative macrocephaly

+

+

+

+

+

5/5

+

triangular face

+

+

+

+

+

5/5

+

protruding forehead

+

–

+

–

+

3/5

+

asymmetry

+

–

–

–

–

1/5

–

clinodactyly of the fifth fingers fingers/toes

+

–

–

+

+

3/5

fifth toe buckling

irregularly teeth

+

–

–

–

–

1/5

+

downturned mouth corners

+

–

–

+

–

2/5

–

ear anomalies

–

–

–

+

large prominent ears

2/5

–

development delay

–

–

–

+

+

2/5

–

other dysmorphic features

slender in appearance

–

–

single cafe’-au-lait spot

broad nasal bridge, ridge and tip, broad lips, retrognathia, epicanthal folds

slender in appearance