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Table 1 Comparison of Cri du chat clinical features among our case and others previously published (modified in part by [9])

From: A cryptic balanced translocation (5;17), a puzzle revealed through a critical evaluation of the pedigree and a FISH focused on candidate loci suggested by the phenotype

Clinical features Our case report Elmakky et al. [9] Van Buggenhout et al [8] Rossi et al. [7] Zhang et al. (2005) Gersh et al. (1995) Church et al. [11] Cornish et al. (1999) Kondoh et al. (2005) Laczmanska et al (2006)
   III:1 III:2 III:3 III:4 III:5 Pt n°7 1 Patient Pt n°117 Family 3 2 Patients Family 4 4 Patients 5 Patients 4 Patients Patient n°3 1 Patient
Chromosomal Anomaly arr 5p15.33p15.32(113576-4612673)×1,17p13.3(525-3071665)×3 Der(5)t(5;15)(p15.3q11.1-2) with microdeletion involving 5p15.33-32 del(5)(p15.31) del(5)(p15.3)
Age 6y 7y 24 m 24 m 34y 58y 18y 35y Nd Nd Nd Nd 6-49y 6y 8d
Low birth weight Nd + Nd Nd 0/2 1/4 1/4 Nd
Growth retardation Nd + + + + Nd 0/2 1/4 1/4 Nd + Nd
Cat-like cry/high-pitched voice + + + + + + + + + 2/2 3/4 3/4 0/5 +
Speech delay + + + 0/2 0/4 0/4 5/5 Nd Nd
ID + Mild Mild 0/2 2/4 Mild 3/5 Mild 3/5 Mild Nd
Motor delay + + Nd Nd 0/2 Nd Nd Nd Nd Nd
Neonatal hypotonia + + Nd + Nd Nd 0/2 1/4 Nd Nd
Microcephaly + + + + + 0/2 1/4 1/5 1/5
Dysmorphisms in childhood + Y Y Y Nd Nd Y Nd N Y/nd N N N N Y
Small round face + + +    +        +
Higly arched eyebrows + + +         
Synophris + + + +         
Hypertelorism +    +       
Epicanthal folds + + +    +    +     
Strabismus + +    +        
Low set ears +      +      +
Thin upper lip + + + +         
Pointed chin + + +    +       
Single palmar creases + + +    +    +     
Disrmorphisms in adult Nd Nd Nd Nd Y Nd Y Y N Nd/N N N N (1patient) Nd Nd
Others clynodactily, hypothyroidism at birth Flat feet Hypospadia   Oligospermia Flat feet Metacarpals4-5th short, flat feet Kydney Hypoplasia, azoospermia     Hypoacusis, preauricle skin tags    Cardiopathy, flat feet