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Table 2 Features of the present and previous cases of the 8p23.1 duplication syndrome:

From: 8p23.1 duplication syndrome differentiated from copy number variation of the defensin cluster at prenatal diagnosis in four new families

Physical findings 
at birth or diagnosis 
Present
Case 1
Present
Case 2
Present
Case 3
Proband
Present
Case 3
Sister
Present
Case 3
Father
Barber
et al.
(2008)
Case 1
Barber
et al.
(2005)
Case 1
Barber
et al.
(2008)
Family 1 Proband
Barber
et al.
(2008)
Family 1 Mother
Barber
et al.
(2008)
Family 2 Proband
Barber
et al.
(2008)
Family 2
Mother
Ascertainment 
of dup(8) 
CHD AMA AMA AMA AMA 1:150 risk DD;CHD PNAI Daughter DYS Son
Prenatal/ 
Postnatal 
Pre Pre Pre Pre Pre Pre Post Post Post Post Post
Pregnancy 
continued 
Y Y N n/a n/a Y n/a n/a n/a n/a n/a
Sex  F M M F M F F F F M F
Delivery 
gestation (wks) 
41 41+1 22 < 40 n/a 40 n/k 42 n/a 40+5 n/a
Apgar 
scores 
7;9 10;10;10 n/a 9 n/a 8;9 n/a n/a n/a n/a n/a
Birth 
weight (kg) 
3.3 2.92 n/r 2.78 n/k 3.15 n/k 3.6 ? 3.39 ?
OFC (cm) 38 35 n/r ? n/k 33.6 n/k n/r n/k 39.5 ?
Age at 
examination 
3/12 Neonate 22/52 15 45 15/12 8 4 n/r 22/12 n/r
Developmental 
delay 
n/a n/a n/a ++ ? n + - - - +
Learning 
difficulties 
n/a n/a n/a + + n/a + - + - +
Facial 
dysmorphism 
- - - - - + + +/- + ++ ++
Congenital 
heart defects 
++ ++ + ++ - n + + - - -
Neurological 
defects 
- n ?+ + - n - + - - -
Syndactyly  - - - - - - - - - + +
Adrenal 
anomalies 
- - + - - - - ++ - - -
Hydronephrosis 
and hydroureter 
- - + - - - - - - - -
Alveolar 
anomalies 
- - + - - - - - - - -
Hearing 
loss 
- - - - + - - - - - -
Exostoses  - - - - + - - - - - -
  1. AMA: Advanced Maternal Age; CHD: Congenital heart defect; DD: Developmental delay;
  2. DYS: Facial dysmorphism; n: no evidence; n/a: not applicable; n/k: not known; n/r: not recorded; PNAI: Primary Neonatal Adrenal Insufficiency; Y = Yes; + = present; - = absent.