Table 1.

Clinical features of the patient, 17p+ and del16q12/Townes– Brocks syndromes

	Patient2	17p+ syndrome1	Del 16q12/Townes Brocks syndrome3
Low birth weight	+	+
Failure to thrive	+	+	+
Short stature	+	+	+
Hypotonia	+	++	+
Microcephaly		+	++
Broad nasal bridge			+
High arched palate			+
Broad forehead	+	+	+
Down-slanted palpebral fissures	+	+
Long nasal tip	+	+
Triangular face		+
Micrognathia	+	+	+
Low-set dysplastic ears	+		++
Congenital heart defects		+	++
Renal anomalies		+	++
Inguinal hernia	+
Umbilical hernia	+		++
Gastroesophageal reflux	+	++	++
Anal stenosis/imperforate anus			++
Anomalies of internal/external genitalia			++
Scoliosis	+	+
Broad/bifid thumb			++
Triphalangeal thumb	+		++
Hypoplastic thumb	+		++
Preaxial polydactyly			++
Finger/toes syndactyly	+		++
Metatarsal anomalies			++
Congenital dislocation of the hips	+		+
Cubital deviation of the fingers	+		+
Clubfoot	+		+
Left facial nerve paralysis	+	[+]
Oral–pharyngeal dysphagia	+	++
Mental retardation	+	++	++
Language/cognitive impairment	+	++
Epilepsy/EEG abnormalities		++
Autistic features		++
Sleep apnea	?	++
Hypermetropia	?	++
Hearing impairment	?	+	++

?, not specifically explored; ++, features observed in more than 70% of the patients with the common duplication; [+], Though not strictly described as facial palsy, an asymmetric smile is seen in many photographs of these patients. ++, those features found also in Townes–Brocks syndrome.

¹Features described in duplications 17p11.2 syndrome [5].

²Features found in the patient.

³Features described in deletions 16q12 [2,3].