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Table 1 A summary of genetic and clinical features of symptomatic female patients with MECP2 duplication reported so far in literature and including the three cases reported herein (Group A: patients with small interstitial Xq28 duplication, Group B: Xq28 duplication due to X;autosome translocations)

From: MECP2 duplication phenotype in symptomatic females: report of three further cases

  

Group A

Group B

Age

 

7-21 years

18 months-19 years

Genetic features

   

Duplicate segment length

 

107.5 Kb-700 Kb

0.29 Kb-16.6 Mb (for two cases the size is unknown but cytogenetic visible)

Inheritance

de novo

4

8

 

Maternal

5

0

 

Unknown

0

1

XCI

Random

6

2

 

Skewed

3

1

 

Unknown

0

6

Clinical features

   

Abnormal general conditions

 

5/9 (55%)

9/9 (100%)

Dysmorphic patterns

 

3/9 (33%)

9/9 (100%)

Delayed motor development

 

4/9 (44%)

9/9 (100%)

Abnormal language development

 

6/9 (67%)

9/9 (100%)

Intellectual disability

 

7/9 (78%)

9/9 (100%)

Mood and behaviour

Affected

4/9 (44%)

1/9 (11%)

 

Unknown

5/9 (55%)

8/9 (88%)

Social conduct

Affected

8/9 (88%)

0/9 (0%)

 

Unknown

1/9(11%)

9/9 (100%)

Autistic features

 

4/9 (44%)

0/9 (0%)

Seizures

 

1/8 (13%)

3/9 (33%)

Brain MRI

Abnormal

0/9 (0%)

3/9 (33%)

 

Unknown

1/9 (11%)

6/9 (67%)

  1. Abnormal general conditions: growth retardation, constipation, hypotonia and/or joint laxity.
  2. Dysmorphic pattern: microcephaly, trigonocephaly, facial dysmorphisms, multiple skeletal and/or organs dysmorphisms.
  3. Language development: either delayed or impaired during school-age and adolescence.
  4. Intellectual disability: Group A: either mild or moderate; Group B: severe only.
  5. Brain-MRI: cortical atrophy along with white matter involvement.