Table 2 |
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|
Features of the present and previous cases of the 8p23.1 duplication syndrome: |
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|
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 |
|
|
|
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|
Ascertainment of dup(8) |
CHD |
AMA |
AMA |
AMA |
AMA |
1:150 risk |
DD;CHD |
PNAI |
Daughter |
DYS |
Son |
|
|
|
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|
Prenatal/ Postnatal |
Pre |
Pre |
Pre |
Pre |
Pre |
Pre |
Post |
Post |
Post |
Post |
Post |
|
|
|
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|
Pregnancy continued |
Y |
Y |
N |
n/a |
n/a |
Y |
n/a |
n/a |
n/a |
n/a |
n/a |
|
|
|
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|
Sex |
F |
M |
M |
F |
M |
F |
F |
F |
F |
M |
F |
|
|
|
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|
Delivery gestation (wks) |
41 |
41+1 |
22 |
< 40 |
n/a |
40 |
n/k |
42 |
n/a |
40+5 |
n/a |
|
|
|
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|
Apgar scores |
7;9 |
10;10;10 |
n/a |
9 |
n/a |
8;9 |
n/a |
n/a |
n/a |
n/a |
n/a |
|
|
|
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|
Birth weight (kg) |
3.3 |
2.92 |
n/r |
2.78 |
n/k |
3.15 |
n/k |
3.6 |
? |
3.39 |
? |
|
|
|
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|
OFC (cm) |
38 |
35 |
n/r |
? |
n/k |
33.6 |
n/k |
n/r |
n/k |
39.5 |
? |
|
|
|
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|
Age at examination |
3/12 |
Neonate |
22/52 |
15 |
45 |
15/12 |
8 |
4 |
n/r |
22/12 |
n/r |
|
|
|
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|
Developmental delay |
n/a |
n/a |
n/a |
++ |
? |
n |
+ |
- |
- |
- |
+ |
|
|
|
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|
Learning difficulties |
n/a |
n/a |
n/a |
+ |
+ |
n/a |
+ |
- |
+ |
- |
+ |
|
|
|
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|
Facial dysmorphism |
- |
- |
- |
- |
- |
+ |
+ |
+/- |
+ |
++ |
++ |
|
|
|
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|
Congenital heart defects |
++ |
++ |
+ |
++ |
- |
n |
+ |
+ |
- |
- |
- |
|
|
|
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|
Neurological defects |
- |
n |
?+ |
+ |
- |
n |
- |
+ |
- |
- |
- |
|
|
|
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|
Syndactyly |
- |
- |
- |
- |
- |
- |
- |
- |
- |
+ |
+ |
|
|
|
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|
Adrenal anomalies |
- |
- |
+ |
- |
- |
- |
- |
++ |
- |
- |
- |
|
|
|
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|
Hydronephrosis and hydroureter |
- |
- |
+ |
- |
- |
- |
- |
- |
- |
- |
- |
|
|
|
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|
Alveolar anomalies |
- |
- |
+ |
- |
- |
- |
- |
- |
- |
- |
- |
|
|
|
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|
Hearing loss |
- |
- |
- |
- |
+ |
- |
- |
- |
- |
- |
- |
|
|
|
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|
Exostoses |
- |
- |
- |
- |
+ |
- |
- |
- |
- |
- |
- |
|
|
|
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|
AMA: Advanced Maternal Age; CHD: Congenital heart defect; DD: Developmental delay; 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. |
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|
Barber et al. Molecular Cytogenetics 2010 3:3 doi:10.1186/1755-8166-3-3 |
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