| |
Forabosco et al., 1988 [9]
|
Courtens et al., 2001 [1]
|
Rodriguez et al., 2002 [10]
|
Present case
|
|---|
|
Case 1
|
Case 2
|
Case 3
|
Case 1
|
Case 2
|
|---|
|
Age
|
Newborn
|
Newborn
|
7 months
|
Fetus - 9 wks
|
Newborn
|
5 months
|
2 years and 4 months
|
|
Sex
|
F
|
M
|
F
|
F
|
F
|
F
|
F
|
|
Cytogenetic result
|
|
- Trisomy
|
7q21-qter
|
7q21-qter
|
7q22-qter
|
7q21.2-qter
|
7q21.2-qter
|
7q21.2-qter, 15p
|
7q22.1-qter
|
|
- Monosomy
|
5p14-pter
|
13q33-qter
|
1qter
|
21p12-pter
|
4q35-qter
|
–
|
14q32.3-qter
|
|
- Parent
|
t(5;7)mat
|
t(7;13)pat
|
t(1;7)mat
|
t(7;21)mat
|
t(4;7)pat
|
t(7;15)mat
|
t(7;14)mat
|
|
Delivered at (weeks)
|
41
|
39
|
32
|
Termination
|
37 + 6 days
|
40
|
35 + 2 days
|
|
Birth weight
|
2200 g
|
2850 g
|
1950 g
|
(271 g)
|
1940 g
|
2.700 g
|
1500 g
|
|
Newborn respiratory distress
|
+
|
+
|
+
|
NA
|
+
|
+
|
+
|
|
Hypotonia
|
+
|
+
|
+
| | |
+
| |
|
Microcephaly
|
+
|
+
| | | | | |
|
Wide fontanelles
|
+
| |
+
|
+
| |
+
|
+
|
|
High forehead
| | |
+
|
+
|
+
| |
+
|
|
Prominent occiput
| | |
+
| | | |
+
|
|
Other skull anomalies
| | | | |
Asymmetry
| |
Scaphocephaly
|
|
Triangular face
| | | | |
+
| |
+
|
|
Hypertelorism
|
+
|
+
|
+
|
+
|
+
| |
+
|
|
Flat/wide nasal bridge
|
+
|
+
|
+
|
+
|
+
| |
+
|
|
Down slanting eyes
|
+
|
+
|
+
| |
+
| |
+
|
|
Other eye anomalies
| | |
L/Anoph-thalmia
| |
Micro-ophthalmia
| |
Retinal changes
|
|
Low-set ears
|
+
|
+
|
+
|
+
|
+
| |
+
|
|
Malformed ears
|
+
|
+
|
+
| |
+
| | |
|
Small nose
|
+
|
+
|
+
|
+
| | |
+
|
|
Micro/retrognathia
|
+
|
+
|
+
|
+
|
+
|
+
|
+
|
|
Macroglossia
| |
+
|
+
| |
+
| | |
|
Cleft palate
| |
+
| |
+
|
+
|
+
| |
|
High arched palate
| | | | | | |
+
|
|
Short neck
|
+
|
+
|
+
|
+
|
+
| |
+
|
|
Low hairline
| | | | |
+ Posterior
| |
+ Anterior
|
|
Clinodactyly
| | | | |
+
| |
+
|
|
Skeletal deformities
| |
Clubfoot
| | | |
Scoliosis
|
Calcaneovarus
|
|
Cardiovascular defects
| | | |
L/S SVC
| |
PDA, HCM
| |
|
CNS malformations
|
+a
| |
+b
| |
+c
|
+d
|
+e
|
|
Abnormal EEG/ Seizures
| | |
+
| | |
+
| |
|
GI malformations
| | | |
Malrotation
|
Complexf
| | |
|
Mental retardation
|
NA
|
NA
|
+
|
NA
|
NA
|
+
|
+
|
|
Survival
|
38 h
|
23 h
|
7 months
|
Termination
|
2 days
|
11½ months
|
Alive
|
- adilated ventricles–mild hydrocephalus; bdiffuse hypodensity of cerebral white matter; cfocal cortical dysplasia of cerebellar vermis; ddilatation of lateral ventricles, subependymal hemorrhage, multicystic encephalomalacia; ebilateral lateral ventriculomegaly and periventricular thalamic striations; fagenesis of appendix, hypoplasia of gallbladder, small and deformed pancreas, NA not applicable, HCM hypertrophic cardiomyopathy
