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Table 1 Clinical characteristics of the patients

From: A sibship with duplication of Xq28 inherited from the mother; genomic characterization and clinical outcomes

Patient

Patient 1

Patient 2

Mother

Age

11 years

10 years

38 years

Gender

Male

Male

Female

Prenatal history

41 weeks, 2500g, NSVD

Infantile hypotonia

41 weeks, 3000g, C/sec

 

Gross motor of K-CDR

30 month function

30 month function

 

Fine motor of K-CDR

20 month function

22 month function

 

Self-help level of K-CDR

24 month function

12 month function

 

Social level of K-CDR

18 month function

16 month function

 

Language development of K-CDR

14 month function

14 month function

 

Mental scale of BSID II

24 month function

9 month function

 

Motor scale of BSID II

14 month function

12 month function

 

K-WAIS-IV

  

77 (6th percentile)

Head and face

Brachycephaly

Large & Low set ears

Nose with upturned nares

Midface hypoplasia

Large ears

Low nasal bridge

Prominent lips

Autism or autistic features

O

O

X

Generalized hypotonia

O

O

X

Choreiform movements

O

O

X

Progressice spasticity

O

O

X

Drooling

O

O

X

Bruxism

O

X

X

Brain-MRI finging

normal

Normal

None

Recurrent infecition

Pneumonia and gastroenteritis

Pneumonia

None

Medical problem

Epilepsy treated with oxycarbamazepine

Epilepsy treated with valproate

Narcolepsy treated with modafinil and SSRI

  1. BSID II Bayley Scales of Infant Development test II, C/sec Cesarean section, K-CDR Korean-Child Development Review, K-WAIS-IV Korean Wechsler Adult Intelligence Scale fourth edition, NSVD normal spontaneous vaginal delivery, SSRI selective serotonin reuptake inhibitor