Table 1 Phenotypic features of patient with 17p13.3. class I microduplication

Age

8 years

6 years

8 years

2 years

14 years

Gender

M

M

F

M

M

Gestational age (weeks)

37

NA

At term

At term

At term

Birth weight (g)

3350

3900

4592

3400

3487

Birth length (cm)

NA

NA

57

51

N

Birth head circumference (cm)

NA

NA

NA

NA

50^th centile

Postnatal growth retardation

-

-

-

-

-

Overgrowth

+ (75^th centile)

+ (90^th centile)

+3 SD

-

+ (90-97^th centile)

Feeding difficulties

-

-

-

-

+

Muscle hypotonia

+

+

+

-

+

Delay in motor function

+

+

+

Delay in fine motor skills

+

Cognitive development

Global delay

Mild to moderate global delay

Global delay

Normal at 2 years

Mild delay

Speech delay

++

++

++

+

+

Neurobehavioural symptoms

PDD-NOS

Behavior problems, aggressive tendencies

Behavior problems particularly with food

Autism, hyperactivity

Autism trait, facial tic

Repeated infection

-

NA

NA

-

-

Facial features:

Face

Triangular

Triangular

N

Forehead

Broad

Broad

Broad

N

Eyes

Thick eyebrows, upslanting palpebral fissures

Thick eyebrows, synophrys

Upslanting palpebral fissures, synophrys

N

Broad, sparse eyebrows

Nose

Squared upturned tip of the nose

Squared, overhanging columella

Squared

N

Squared, upturned tip

Ears

Large

Large

Large

Prominent

Large, fleshy

Mouth

Thin

Thin upper lip

Thin upper lip

Prominent cupid bow

Prominent cupid bow

Mandible

Pointed chin

NA

Prominent chin

Pointed chin

Pointed chin

Hands/feet anomalies

Short and stubby with low-set thumbs

Large hands, small distal phalanges

Large hands

Bilateral groove between toe one and two

Hallux valgus, sandal gap, abnormal toe nails

Associated malformations

-

-

-

-

Genu valgum

MRI

Corpus callosum hypoplasia and mild cerebellar hypoplasia

NA

Thin corpus callosum

NP

NP