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Table 2 Summary of the clinical data, results of FISH‚ array-CGH and qPCR analysis in patients with WBS

From: Genome wide array-CGH and qPCR analysis for the identification of genome defects in Williams’ syndrome patients in Saudi Arabia

 

Age/ Sex

Dysmorphic features

CHD

MR

Dental Anomalies

Hyper calcemia

FISH

Array-CGH del. size

680-11

8 yr/ F

+

SVAOS

+

+

No

Del 7 (q11.23)

Del 7q

1.42 Mb

Bl-744-10

35 yr/F

Mother of case No. 680-11

Dup 22q11.21

664-10

6 yr/M

+ features of WBS

SVAOS

+

+

 

Del 7 (q11.23)

Del 7q (qPCR)

1.8 Mb

1190-10

9 yr/F

SVAOS,

Medullary nephrocalcinosis

SVAOS, AoCo, mild valvular Pul. st

+

+

No, high phosph

Del ch.7 (q11.23)

Del 7q (qPCR)

1.40 Mb

1071-11

18 yr/F

Characteristic features of WBS

SVAOS

+

+

yes

Del 7q

(q11.23)

Del 7q

1.44 Mb

320-12

3 yr/F

Dysmorphic

Mild LPA stenosis

SVAOS

+

+

No

Del 7q

(q11.23)

Del 7q

1.41 Mb

1771-10

29 yr/ F

Mother of case No. 320-12

No del

Dup 7q11.23

3.347 Mb

1787-10

4 yr/F

+

Inguinal hernia

Congenital Pul. valve stenosis

+

+

No.

High phosph

Del 7q

(q11.23)

Del 7q

1.42 Mb

272-14

2 yr/M

+

Inguinal hernia, short stature

Pul. St, ASD, VSD

+

+

 

Del 7q

(q11.23)

Del 7q

1.39 Mb

858-14

5y/ F

+ features of WBS

Pulm. St, PFO

+

+

+

Del 7q11.23

Del 7q 1.42 Mb

663-10

14 yr/F

Dysmorphic, speech delay, MR

Aortic stenosis

+

45,XX, der (19)

t(18:19), (q11.1;p13.3

Del 18p11.32–p11.21

(14.859 Mb)

1140-11

7 yr/F

Squint, bulbous nose, flat nasal bridge, wide mouth, periorbital fullness, MR

VSD

+

+

No

Not done

Del 7q

0.2 Mb by qPCR

718-10

2 yr/F

dil. Cardiomyopath seizure, failure to thrive, left vocal cord paralysis

Trivial mitral regurge, trivial pulmonary. insufficiency

+

Cong. Hypo- calcemia

No del

Dup 7q11.23

(3.249 Mb)

889-12

1.1 yr/ F

dysmorphic

Supra valvular Ao. St., Lt pulmon.st

 

No del

Dup 7q11.23

289-13

1.5 yr F

DD, microcephaly, low set ears, epilepsy, semian crease

Pulm. St.

No del 7q

Dup7q11.22–q11.23

  1. Abbreviations: Del deletion, Chr chromosome, der derivative, q long arm, p short arm, F female, M male, yr year, ND not done, Pul. St. pulmonary stenosis, SVAOS supra valvular Aortic stenosis