Table 1. Phenotypic summary of reprted cases of partial 16q trisomy resulting in liveborns.

The table includes only liveborn deliveries. Interstitial duplications were not included in this table to account only for the more common trisomic births resulting from parental translocation. The monosomic segment is not indicated to highlight the common syndromic features of this partial trisomy. Developmental delay was uniformly reported in patients surviving long enough for high quality assessment. Due to the high perinatal mortailtiy resulting in incomplete developmental assessment for the majority of cases, developmental delay is not included in the table.

Feature (N=46)			Entire 16q (N=2)†	16q11→qter (N=6)	16q12→qter (N=2)	16q13→qter (N=6)	16q21→qter (N=8)	16q22→qter (N=7)‡	16q23→qter (N=6)	16q24→qter (N=6)	Trisomic segment unspecified (N=3)
IUGR/LBW (65%)			2/2	3/6	2/2	3/6	6/8	5/7	4/6	2/6	3/3
Head and Face	Dolichocephaly (15%)			2/6	1/2	1/6	2/8	1/7
	Prominent forehead (61%)			5/6	2/2	4/6	6/8	5/7	3/6	1/6	2/3
	Other reported features	Craniosynostosis	+	+		+ (metopic)	++
		Triangular facies	+	++		++	+
		Small fontanelles		+			++
		Microcephaly					++			++
		Trigonocephaly				+			+
		Low hairline		+		+		+
		Brachycephaly		+		+
		Mid-face hypoplasia		+		+	+	+
		Other		scalp cutis aplasia		temporal hirsutism abnormal ossification of the skull	Coarse facial features	High frontal hairline		Bitemporal narrowing large anterior fontanelle
Eyes	Downslanting palpebral fissure (46%)		2/2	6/6		3/6	4/8	2/7	2/6	1/6	1/3
	Telecanthus/Hypertelorism (39%)		1/2	1/6	2/2		4/8 (2,2)	3/7 (1,2)	5/6 (1,5)	1/6	1/3
	Small palpebral fissures		1/2				4/8	3/7		2/6	1/3
	Other reported features	Periorbital edema		+		+				+
		Epicanthal folds			+	+	++		++	+++
		Strabismus					++	+	++		+
		Upslanting palpebral fissures				+		+	+	++
		Prominent/arched eyebrows				+	++	+	+
		Coloboma		+					+
		Ptosis			+			+
		Other				Exophthalmos infraorbital creases	narrow palpebral fissure long eyelashes	Megalocornea optic nerve atrophy	retinal hypopigmentation	hypermyopia	Rieger’s anomaly congenital glaucoma
Ears	Low set/dysplastic (83%)		2/2	6/6	2/2	5/6	8/8	4/7	5/6	4/6	2/3
	Preauricular pits		+	+	+				+ (tragus)
	Large ears			+						+
Nose / mouth	Smooth long philtrum (43%)		2/2	2/6		4/6	3/8	4/7	2/6	3/6
	Thin upper lip (50%)		1/2	2/6	1/2	4/6	4/8	6/7	2/6	1/6	1/6
	Depressed nasal bridge (28%)		1/2		2/2	2/6	3/8		2/6	2/6	1/3
Palate	Micrognathia (54%)		1/2	6/6	2/2	2/6	5/8	3/7	3/6	2/6	1/3
	High arched			3/6		2/6	2/8	3/7	1/6	2/6
	Cleft palate			1/6		2/6	2/8			1/6
	Other features	Bulbous nose/tip		++	+	+		+
		Prominent nasal bridge					+++	+++
		Beaked nose		+			++			+
		Anteverted nares					+		+	++
		Choanal stenosis/atresia		+			+	+
		Other		hypoplasia of the glottis			hypoplastic lower lip mount open at rest ankyloglossia		thick columella gingival hypertrophy down-turned corner of mouth	thick everted lips short philtrum widely spaced teeth	Partial bifid tongue
Chest and neck	Wide set nipples (17%)		1/2	2/6		3/6	2/8
	Short/webbed neck (37%)			3/6	1/2	2/6	4/8	3/7	1/6	2/6	1/2
	Other features	Long and narrow thorax		++			+	+
		Pulmonary hypoplasia	+			+
		Other					Pneumothorax pectus excavatum small thorax
Musculoskeletal	Contractures of large joints (28%)		1/2	3/6		3/6	2/8	2/7	1/6	1/6
	Joints	Elbow		+		+	+	+
		Knee		++		++		+
		Wrists	+			++			+
		Hip	+			++		+
		Ankle				+	++		+	+
	Clinodactyly (52%)		1/2	3/6	2/2	6/6	4/8	4/7	2/6		2/3
	Overlying fingers / toes (20%)		1/2	3/6		4/6		1/7
	Other reported features	Hypopl. phalanges/metacarpals		+		++				+
		Scoliosis/kyphosis		+			++
		Rocker-bottom feet		+		+
		Talipes equinovarus					++
		Cubitus/Genu/pes valgus		+			++		+
		Camptodactyly/syndactyly		+		++	+	+
		Proximally placed thumb				+			+
		Single palmar crease						+		+
		Platyspondyly/vertebral hypoplasia					+		+	+
		Other				nail hypoplasia	Brachydactyly delayed bone age brittle teeth spina bifida occulta	sacral dimple abducted hips	C7-T1 spinal canal anomaly short 5th finger persistence of fetal pat-pad	Hyperextensible joints broad hands with tapering fingers arachnodactyly diastasis recti umbilical hernia diaphragmatic hernia enlarged sternal heads costal flaring large iliac wings osteochondroma
Congenital cardiac defect (61%)			2/2	4/6	1/2	6/6	4/8§	3/7	3/6	3/6	2/3
	Types	ASD		+		+	++		+	+
		VSD	+			+			++	+
		PDA		+++		+++	+++	+		+
		Coarctation/hypoplastic arch	TAPVR	+	+	+		++
		Hypoplastic left heart				+
		PFO				+
		Dysplastic pulmonic/aortic valve					++			+
		Other		AV block			Double-outlet right ventricle anomalous origin of the subclavian artery		TGA
GI anomalies	Anteriorly displaced anus (15%)		1/2	2/6			2/8	1/7			1/3
	OtherΔ	Malrotation	+			+
		Gallbladder hypoplasia		++		+	+
		Other biliary anomalies	+ (jaundice)	+ (fibrosis)			+ (paucity)
		Liver anomalies		+		+
		Hernia				+	++		+	+
		Other features		short intestine		Imperforate anus	severe GERD	Anal stenosis chronic constipation	NEC
GU anomalies	Cryptorchidism/ambiguous genitalia (57%)		1/1	3/4	1/2	2/4	4/5	2/4		1/4
	Micropenis (58%) [N=19]		1/1	4/4			4/4	2/4
	Hypoplastic/dysplastic labia majora (17%) [N=18]			1/2		1/2			1/2
	Hydronephrosis (15%)		1/2				1/8		1/6
	other	Renal		cortical and medul. hemorrhages megacystis		Vesicoureteral reflux				Vesicoureteral reflux
		GU	Ovarian hypoplasia, bicornuate uterus
Neurological	Hypotonia¶ (61%)		1/2	3/6		3/6	6/8	4/7	4/6	5/6	2/3
	Hypertonia		1/2				1/8		1/6
	CNS malformations (24%)Δ		1/2	1/6		2/6	1/8	2/7	3/6	1/6
	Types	Ventriculomegaly		+			+		+
		Third ventricle anomalies				+	+
		Hypomyelination#						+	++	+
		Other	frontal lobe cyst			Rhomboencephalosynapsis absence of olfactory nerve		occipital lobe hypoplasia		Periventricular leukodystrophy
Immune	Recurrent sinopulmonary infections		+			++			+
	Recurrent otitis media							+	++
	Meningitis							+	+
	Other		Hypoplastic thymus Macrophages infiltration of myocardium & lung Recurrent E coli infections	Persistent diarrhea	Persistent diarrhea			Severe asthma
Other	Sensorineural hearing loss					+			+	++
	Blindness							++
	Seizures						+	+
	Reduced subcutaneous fat tissue			+							+
	Other			cutaneous appendages			Meconium aspiration Hypoglycemia large hydrocele lanugo of upper body ascites diminished primitive reflexes diffuse hypopigmentation obstructive sleep apnea torticollis laryngomalacia erythroblastosis fetalis		IQ of 51 ADHD Laryngomalacia 4 limb dystonia
Length of life			7 weeks to 7 months	6 days - 4 months	10 days	8 days - 31 months	18 days – alive at 7 years	9 days – Alive at 9 months	3 months– Alive at 10.5 years	Alive at 15 month – Alive at 19 years	14 days, 3 months, and 1 year

^{† -}Reference (Bacino et al., 1999) is not included as the mild phenotype is associated with X inactivation of the translocated chromosome.

^{‡ -}(Tsien, Morava, Talarski, & Marble, 2005) Report includes a translocation involving the Y chromosome with only a significantly milder phenotype.

^{§ -}(Garau et al., 1980) Reports a systolic murmur was auscultated but autopsy was denied. No echocardiogram was available.

^{¶ -}in some cases, poor suck and feeding difficulties are reported without the mentioning of general muscular tone.

^{# -}hypomyelination includes dysgenesis of corpus callosum

^{Δ –}The majority of case reports predate advanced brain and GI imaging and postmortem studies and/or barium series were not performed on all affected babies.

References for cases in the table.

q11→qter: (Eggermann, Kolin-Gerresheim, Gerresheim, & Schwanitz, 1998; Hahm, Chitayat, Iqbal, Cho, & Nitowsky, 1987; Nevin, Coffey, Nevin, & Reid, 1983; Ridler & McKeown, 1979)

q12→qter: (Chen et al., 2003; Paladini et al., 1999)

q13→qter: (Buckton & Barr, 1981; Davison & Beesley, 1984; Dowman, Lockwood, & Allanson, 1989; Hatanaka, Ozaki, Suzuki, Murata, & Fujita, 1984; Luberda-Zapaśnik, Midro, & Szwałkiewicz-Warowicka, 1995)

q21→qter: (Balestrazzi et al., 1979; Calva, Frias, Carnevale, & Reyes, 1984; de Carvalho et al., 2010; Garau et al., 1980; Lessick, Israel, Wong, & Szego, 1989; Maher, Willatt, Cuthbert, Chapman, & Hodgson, 1991; Mishra et al., 2018; Yue et al., 2019)

q22→qter: (Basinko et al., 2011; Houlston, Renshaw, James, Ironton, & Temple, 1994; Nyhan, Mascarello, Barshop, Doroski, & Hirschhorn, 1989; Rethoré et al., 1982; Sousa et al., 2004; Tsien et al., 2005)

q23→qter: (Basinko et al., 2011; Maher et al., 1991; Papadopoulou et al., 2017; Savary et al., 1991)

q24→qter: (Baker et al., 2002; Brisset et al., 2002; Ferrero et al., 2006; Giardino et al., 2001; Maher et al., 1991; Zahn et al., 2005; Zhou et al., 2013)

Unknown: (Eriksson et al., 1971; Ferguson & Hicks, 1987; Francke, 1972) These publications did not utilize modern chromosome analysis techniques however the phenotypic description is most consistent with involvement of large segement of 16q; for reference (Francke, 1972), the relevant case is #10.