Table 5

Phenotypic features of individuals with microdeletions in 17p13.3

	Case 1	Case 2	Case 3	Case 4	Case 5	Case 6a	Case 6b	Case 6c	Case 7	Case 8	Case 1^*	Case 2^*	Case 3^*	Case 4^*	Case 5^*	Mignon-Ravix	ILS	MDS
Age (years)	21	13	2	9	17	4.5	2.5	38	50	3	13	5.5	10.5	8	17	3.5
Gender	Male	Female	Male	Female	Female	Male	Male	Female	Female	Female	Male	Female	Female	Male	Female	Male
Gestational age (weeks)	35	Full term	36+4	42	42	38+6	39+1	36	Premature	39	NI	NI	NI	NI	NI	39
BW (g)	2490 (−0.5 SD)	3390 (M)	2270 (−2 SD)	3120 (−1.5 SD)	2875 (−2 SD)	2825 (−1 SD)	3000 (M)	2000 (−1.5 SD)	IUGR	2350 (−2 SD)	3180 (−1.3 SD)	2630 (−2.1 SD)	2560 (−2.0 SD)	2540 (−2.2 SD)	NI	3260 (25th centile)		Low
BL (cm)	44 (−1.5 SD)	51 (M)	46 (−1.5 SD)	48 (−1 SD)	NI	NI	NI	NI	NI	44 (−3 SD)	NI	47.5 (−1.8 SD)	45.0 (−3.0 SD)	45.7 (−2.8 SD)	NI	46.5 (−1 SD)
BHC (cm)	33 (M)	34 (M)	N	NI	36 (+1 SD)	NI	NI	NI	NI	34 (M)	NI	NI	NI	NI	NI	38 (+2–3 SD)
Postnatal growth retardation	++	++	++	++	−	++	++	+	++	++	– (–1.3 SD)	++ (–4.4 SD)	++ (–3.3 SD)	++ (–4.1 SD)	++ (–3.5 SD)	NI height macrocephaly (+3 SD)	Microcephaly	++ Microcephaly
Feeding difficulties	−	−	Neonatal	Neonatal	−	−	−	−	−	++	NI	NI	NI	NI	NI	NI	−	Failure to thrive
Muscle hypotonia	−	−	+	−	−	−	+	−	−	−	Mild	−	Mild	−	−	NI	+	+
Developmental disorder	Mild MR	Moderate MR	DD	Mild MR, speech delay	Mild learning difficulties, problems with concentration, poor coordination	DD	DD	Speech delay	Mild MR	Moderate MR	Mild – moderate MR	Mild DD	Mild DD	Mild DD	Mild DD	Motor delay, NI on cognition	+	++
Behavioural problems	−	−	−	Echolalia	−	−	−	−	−	−	NI	NI	NI	NI	NI	NI	−	−
Recurrent infections	−	−	−	−	−	+	−	+	−	+	NI	NI	NI	NI	NI	NI	−	−
Facial features:
Face	N	N	Broad	Midface retrusion	Round	N	N	N	N	Triangular							N	Mid-facial hypoplasia
Forehead	Bitemporal narrowing, high anterior hairline	Frontal bossing	N	Broad, high anterior hairline	N	N	N	N	N	Broad, frontal bossing	Prominent	Prominent	NI	Prominent	Prominent	High, bitemporal narrowing	Bitemporal narrowing	High, bitemporal narrowing
Eyes	Short and down-slanting palpebral fissures, ptosis, Laterally extended eyebrows	Infraorbital folds, laterally extended eyebrows	Down-slanting palpebral fissures, laterally extended eyebrows	Narrow palpebral fissures, laterally extended eyebrows	N	Infraorbital fold	N	Infraorbital fold	N	Large eyes, eyelid coloboma	Epicanthus, down-slanting palpebral fissures	N	Down-slanting palpebral fissures	Epicanthus inversus	N	Epicanthus, hypertelorism, down-slanting palpebral fissures	N	Hypertelorism, upward slanted palpebral fissures
Nose	Broad nasal tip	Broad nasal tip anteverted nares	Broad nasal tip and base	Low insertion of columella	Broad	Broad nasal tip	Broad nasal tip	Broad nasal tip	N	Broad base	N	Broad nasal root	Broad nasal root	Broad nasal root	Broad nasal root	Anteverted nares	Broad base	Short with anteverted nares, broad base
Ears	Small with overfolded helix	N	Low set, cupped	Darwinian tubercles	N	Addition al crus of antihelix	N	N	Low set	N	Low set, large auricles	N	Low set	N	N	Low set, posteriorly rotated thick and irregular helix	N	Low set, posteriorly rotated
Maxilla	Maxillary Prominence	Maxillary Prominence	N	Maxillary Prominence	N	N	Maxillary Prominence	N	N	Maxillary Prominence	NI	NI	NI	NI	NI	Marked cupid bow	N	Prominent upper lip
Mandible	Micro-retrognathia	Retrognathia	Micrognathia	N	N	N	N	N	N	Micrognathia	Retrognathia	N	Mild retrognathia	Retrusion	N	NI	Small jaw	Micrognathia
Mouth	Thick upper lip vermillion, Thick and everted lower lip vermillion	Prominent upper lip with thin vermillion	Thick and everted upper lip vermillion	−	−	Wide mouth with thick and everted lower lip vermillion	−	Wide mouth	Thick upper lip vermillion, thick and everted lower lip vermillion	Prominent upper lip with thin vermillion	Ni	NI	NI	NI	NI	N
Hand–foot abnormality	−	5th finger clinodactyly, broad distal phalanges, narrow fingernails	−	−	Mild shortening of 2nd and 5th fingers, medially deviated great toes	5th finger clinodactyly	5th finger clinodactyly	−	Brachydactyly, 5th finger clinodactyly	5th finger clinodactyly, long slender fingers	Arthrogryposis of upper limbs	NI	5th finger clinodactyly, short 2nd phalanges	NI	NI	N	−	Polydactyly, 5th finger clinodactyly, camptodactyly
Malformation	Cryptorchidism, hypospadia	Submucous CP, PDA	Iris coloboma	−	−	−	−	−	−	Submucous CP, PDA, embryotoxon	Anteriorly placed anus, VUR, hydronephrosis	PFO, PDA, coloboma of iris	−	Bifid tongue, pectus excavatum, cryptorchidism	Submucosal cleft palate, PDA	−	−	CP, occasional malformation of heart and kidney
MRI	No LIS. Wide perivascular spaces, white matter abnormalities, low cerebellar tonsils	No LIS. White matter abnormalities, low cerebellar tonsils	NP	No LIS. Wide perivascular spaces, white matter hyperintensities	NP	N	Signal abnormalities in white matter	NP	NP	No LIS. Wide perivascular spaces, white matter abnormalities, Hypoplastic adenohypophysis and olfactory tracts.	Thinning of corpus callosum and frontal cortex	Chiari I malformation, signal abnormalities in subcortical white matter	N	Chiari I malformation, wide perivascular spaces	Wide perivascular spaces, signal abnormalities in subcortical white matter	Hypoplasia of corpus callosum with posterior agenesis, nodular periventricular and subcortical heteroplasias, cortical abnormalities	LIS	LIS,ACC

Bold type indicates common features among individuals with novel 17p13.3 microdeletions.
↵* Sreenath Nagamani et al.15
–, not present; +, ++, present; ACC, agenesis of the corpus callosum; BHC, birth head circumference; BL, birth length; BW, birth weight; CP, cleft palate; DD, developmental delay; ILS, isolated lissencephaly sequence; LIS, lissencephaly; M, mean; MDS, Miller–Dieker syndrome; MR, mental retardation; N, normal; NI, no information; NP, not performed; PDA, persistent ductus arteriosus; PFO, persistent foramen ovale; VUR, vesico–urethral reflux.