Cri-Du-Chat Syndrome: Clinical Profile and Chromosomal Microarray Analysis in Six Patients
Table 1
Data of six patients with 5p deletion.
Chromosome 5 region
p15.2
p15.1-p14.3
p14.1-p13.3
Total
Patients
1
2
3
4
5
6
Sex
F
F
M
F
M
M
3 M/3 F
Age (at last examination)
20 y
7 y
15 y
15 y
6 y
38 y
Height (centile)
1.52 m (5th)
1.32 m (97th)
1.60 m (10th)
1.49 m (3rd)
0.95 m (<3rd)
1.60 m (<3rd)
Weight (centile)
40 kg (<3rd)
39.8 kg (>97th)
56 kg (50th)
34.7 kg (<3rd)
10 kg (<3rd)
56.5 kg (5th)
Head circumference (centile)
53 cm (25th)
50 cm (10th)
47 cm (<3rd)
47.5 cm (<3rd)
44 cm (<3rd)
51 cm (<3rd)
Age at diagnosis
5 y
3 m
8 m
3 m
1 y
12 y
Birth weight (centile)
2600 g (5th)
3700 g (>50th)
2750 g (10th)
2700 g (10th)
3410 g (50th)
2600 g (5th)
Head circumference at birth (centile)
33 cm (10th)
33 cm (10th)
33 cm (10th)
33 cm (10th)
36 cm (50th)
31.7 cm (3rd)
Hypotonia during childhood
+
+
+
+
+
+
6/6
Gastroesophageal reflux during childhood
−
NA
+
−
+
+
3/5
Typical cry at birth
+
+
+
+
+
+
6/6
Hoarse voice
+
−
+
−
+
−
3/6
Round face during childhood
+
+
+
+
+
+
6/6
Long and narrow face with age
+
+
+
+
+
+
6/6
Facial asymmetry
−
−
+
−
−
+
2/6
Microcephaly
−
−
+
+
+
+
4/6
Broad nasal bridge
+
+
+
+
+
+
6/6
Long philtrum
−
−
−
−
−
−
0/6
Hypertelorism
−
+
+
+
+
+
5/6
Epicanthal folds
−
+
+
+
+
+
5/6
Strabismus divergent/convergent
+
+
+
+
+
+
6/6
Lateral downward-slanting palpebral fissures
−
+
+
+
+
+
5/6
Downturned corners of the mouth
−
+
+
+
+
+
5/6
Slightly open mouth
−
+
+
+
−
+
4/6
Full lower lip
−
+
+
+
−
−
3/6
Protruding tongue
−
+
+
−
−
−
2/6
High-arched palate
+
+
+
+
+
+
6/6
Microretrognathia
+
+
+
+
+
+
6/6
Malocclusion
+
+
+
+
+
+
6/6
Low-set ears
−
−
−
+
−
+
2/6
Ear minor malformation
−
+
+
+
+
+
5/6
Short neck
−
+
−
−
−
2/6
Premature hair graying
−
−
+
−
−
+
2/6
Hypertonia
−
−
+
+
−
+
3/6
Heart defect/disease
+
+
NA
NA
4/4
Malformations of feet or hands
−
+
+
+
+
+
5/6
Scoliosis
−
−
+
−
−
+
2/6
Simian crease
−
+
+
+
+
+
5/6
M, male; F, female; feature observed during first years, not currently; +, feature currently present; −, feature absent; NA, information not available; alteration corrected during infancy; malformations including polydactyly, clinodactyly, and flat feet; intermediate simian crease.
