Table 2. RSTS spectrum and patient-specific clinical signs of the four patients carrying de novo imbalances.

Patient	14	51	61	58
Imbalance	Del 2q24.3	Del 2q22.3q23.1	Dup 3p12.3p14.1	Del 7p21.4
Sex	F	M	F	M
Age at diagnosis	6 months	4 years	6 months	5 years
Main RSTS clinical signs
Prenatal growth retardation	+	−	−	NA
Postnatal growth
Low birth weight	−	−	−	NA
Low weight and/or height	+	−	−	−
Development
Failure to thrive	−	−	−	NA
Feeding difficulty in infancy	−	−	+	NA
PM delay	+	+	+	Speech delay
Mental retardation	+	Profound	Moderate	+
Behavioural problems	NA	Autistic-like behaviour	Mild ADHD	NA
Typical dysmorphisms
Microcephaly	−	+	+	+
Long eyelashes	+	+	−	−
Dowslanting palpebral fissures	+	+	+	+
Prominent beaked nose	+	+	−	+
Columella below the alae nasi	+	+	+	+
‘Grimacing' smile	NA	+	NA	NA
High and vaulted palate	−	+	NA	+
Micrognathia	+	−	−	−
Other				Left eye ptosis, short philtrum
Hirsutism	+	+	+
Hands
Radial deviation of thumb	+	+	+	−
Broad thumb	+	−	+	+
Bifid thumb	−	−	−	−
Other		−		5th finger clinodactyly
Feet
Broad hallux	+	+	+	+
Bifid hallux	−	−	−	−
Other	Brachysyndactyly 3–4–5th finger
Major malformations
CNS anomalies	Thin corpus callosum		Corpus callosum agenesis, hippocampal anomalies
Ocular anomalies		Left exotropia	Strabismus, myopia	Ptosis, exophoria
Congenital heart defects	Ventricular septal defect	PDA	−	−
Criptorchidism	/	+	/	+
Dental anomalies	−	−	−	−
Kidney anomalies	NA	Left renal pelvis ectasia		NA
Medical complications
Neoplasms	−	−	−	NA
Keloids	−	−	−	NA
Other		Tracheal stenosis
Individual clinical signs	Deafness left ear	Genu valgum, pes planus, seizures	CLS, angioma	CLS

Abbreviations: ADHD, attention-deficit hyperactivity disorder; CLS, café au lait spots; PDA, patent ductus arteriosus; NA, not assessed.