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Table 2 Comparison of 17p segmental duplication clinical features among our case and others previously published (modified in part by [23])

From: A cryptic balanced translocation (5;17), a puzzle revealed through a critical evaluation of the pedigree and a FISH focused on candidate loci suggested by the phenotype

 

Bi et al. Patient 7(2009)

Roos et al. Patient 1 (2009)

Roos et al. Patient 2 (2009)

Roos et al. Patient 3 (2009)

Bruno et al. Patient 10(2009)

Hyon et al. (2011)

Avela et al. (2011)

Ruiz Esparza-Garrido et al. (2012)

Our patient

Chromosomal abnormality

duplication

interstitial duplication

terminal duplication

terminal duplication

interstitial duplication

t(X;17)

ins(4;17)

t(10;17)

t(5;17)

Inheritance

de novo

de novo

de novo

de novo

de novo

?

de novo

from father

from mother

Size of duplication, Mb

3,6

1,8

3

4

2

4,2

7

3,22

3,1

Age at diagnosis, years

10

14

1

1

6,5

13

5

0,5

6

Sex

F

M

F

M

M

F

F

F

F

Birth Height, cm

53

53

NA

50

normal

normal

45

51

NA

Birth weigth, g

3060

3350

4200

3380

2670

normal

2570

3000

NA

Current Height

+1SD

+3,5SD

normal

+1SD

normal

+1SD

NA

50–75th percentile

111 cm (10–25th percentile)

Current weigth

+2SD

+1SD

−2SD

+1SD

−1,5SD

+1SD

NA

25th percentile

17 kg (10th percentile)

Craniofacial features

         

Current head circumference

−1,5SD

NA

+

+2SD

−0,8 SD

+1SD

NA

37 cm (<3rd percentile)

50 cm (10–25th percentile)

Hypotonic face

+

+

+

NA

+

+

Broad midface

+

+

NA

+

+

+

Low seat ears

+

+

NA

+

+

Frontal bossing

+

+

+

NA

+

Triangular chin

NA

+

+

+

+

+

+

+

Downslanting palpebral fissures

+

+

+

+

+

+

Hypertelorism

+

+

+

+

+

+

+

Broad nasal bridge

+

+

+

+

+

+

+

Strabismus

+

+

Abnormalities of the philtrum and mouth appearance

normal

normal

small

small

prominent cupid bow

small

normal

normal

small

Neck appearance

normal

normal

short

short

normal

normal

short

+

normal

Cleft lip and palate

+

+

Clinodactyly

+

+

+

+

+

Hip luxation

+

NA

Equinovalgus

right

+

Hirsutism/Hypertrichosis

+

Neurological

         

Hypotonia

+

+

+

+

+

+

Speech delay

+

+

+

+

+

+

+

+

Feeding difficulties

+

+

+

+

Delayed mental development

+

+

+

+

+

+

+

+

Abnormal behavior

+

+

+

+

autism

+

+

+

+

Hypothyroidism at birth

+