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Table 1 Comparison of clinical symptoms observed in three groups of patients with Xq duplications.

From: Distal Xq duplication and functional Xq disomy

   Xq21q24 DF* Xq26.3qter DF** MECP2 duplication ***
Number of cases   12 21 47
Caesarean section   0/1 8/14 nr
Growth     
  Growth retardation 9/10 17/19 2/3
  Microcephaly 4/5 19/19 5/39
Facial dysmorphism     
  Prominent metopic suture nr 5/15 nr
  Epicanthus fold nr 5/6 1/8
  Large ears nr 9/12 4/20
  Small mouth nr 11/13 6/20
  Abnormal palate/maxillar alveolus nr 13/14 nr
  Facial hypotonia nr 3/4 19/28
Neurologic outcome     
  Hypotonia 11/11 19/19 29/32
  Developmental delay 12/12 19/19 47/47
  Absent or delayed speech nr 11/14 46/47
  Never walked or limited walking nr 12/14 21/34
  Spacticity nr 3/4 17/21
  Seizures nr 6/16 22/42
Malformations     
  Hypoplastic genitalia/cryptorchidism 11/11 15/19 5/10
Others     
  Severe feeding problems 9/9 10/14 15/29
  Gastroesophageal reflux nr 4/7 13/17
  Constipation nr 5/5 nr
  Small feet nr 8/8 nr
  Digital abnormalities 5/5 13/19 6/20
  Recurrent infections 2/2 15/17 33/40
  1. nr : not recorder
  2. * modified from Cheng SF et al.[1] and Gabbett et al.[19]
  3. ** modified from Sanlaville et al.[5] and Smyk et al.[20]
  4. *** modified from Ariani et al.[27], Meins et al.[28], Van Esch et al[26]., Freiz et al.[29], del Gaudio et al.[30], Madrigal et al.[31], and Smyk et al.[20].