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Table 2 Symptoms in the index patient common to Phelan-McDermid syndrome and mosaic monosomy for chromosome 22 as well as atypical symptoms

From: Compound phenotype in a girl with r(22), concomitant microdeletion 22q13.32-q13.33 and mosaic monosomy 22

Index patient Phelan-McDermid syndrome Mosaic monosomy 22
Developmental delay + +
Sleep disturbance +  
Neonatal hypotoniaa   +
Seizures +  
Speech delay +  
Low weighta   +
Accelerated growth +  
Microcephaly + +
Flat occiput   
High anterior hairline   
Broad foreheada   +
Micrognathiaa   +
Epicanthus + +
Widely spaced eyesa   +
Upslanted palpebral fissure   
Upper eyelid fullness   
Straight eyebrows   
Prominent ears + +
Wide and depressed nasal bridgea   +
Bulbous nose +  
Smooth and short philtrum +  
Thin vermillion of the upper lipa   +
Widely spaced teeth +  
High palatea   +
Clinodactyly (radial, F5, bilateral)a   +
Proximally placed thumb (bilateral)   
Thickening of distal phalanx of thumb (bilateral)   
Pes planus   
Sandal gap   
Cutaneous syndactyly of the toes (T2-3, bilateral)a   +
Short toes (T3-5, bilateral)   
Dysplastic nails of the feet +  
Asthenic body   
Wide umbilical ring   
Sacral dimple +  
Aggression +  
Signs of autism +  
Attention deficit hyperactivity disorder +  
Dandy-Walker variantb +  
Ventriculomegaly +  
Small heart anomaliesa   +
  1. Footnotes. Symptoms of the index proband never before described in patients with Phelan-McDermid syndrome or mosaic monosomy for chromosome 22 are shown in bold. a-symptoms specific to monosomy 22. b - patient P60 from [37] had Dandy-Walker malformation.