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

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

Index patient	Phelan-McDermid syndrome	Mosaic monosomy 22
Developmental delay	+	+
Sleep disturbance	+
Neonatal hypotonia^a		+
Seizures	+
Speech delay	+
Low weight^a		+
Accelerated growth	+
Microcephaly	+	+
Plagiocephaly
Flat occiput
High anterior hairline
Broad forehead^a		+
Micrognathia^a		+
Epicanthus	+	+
Widely spaced eyes^a		+
Upslanted palpebral fissure
Upper eyelid fullness
Straight eyebrows
Prominent ears	+	+
Wide and depressed nasal bridge^a		+
Bulbous nose	+
Smooth and short philtrum	+
Thin vermillion of the upper lip^a		+
Widely spaced teeth	+
High palate^a		+
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	+
Enuresis
Dandy-Walker variant^b	+
Ventriculomegaly	+
Small heart anomalies^a		+

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.

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