Table 2

Clinical features of patients with deletions of 15q24

Patient	1	2	3	4	5	6	7	8
Coord (Mb)	70.06–72.43	70.73–73.33	70.73–73.33	70.73–73.33	70.73–73.33	70.73–73.89	70.73–73.89	70.73–73.89
Breakpoints	Atypical	A–C	A–C	A–C	A–C	A–D	A–D	A–D
Size (# genes)	2.37 Mb (33 genes)	2.60 Mb (45 genes)	2.60 Mb (45 genes)	2.60 Mb (45 genes)	2.60 Mb (45 genes)	3.16 Mb (>50 genes)	3.16 Mb (>50 genes)	3.16 Mb (>50 genes)
Inheritance	De novo (maternal)	Unknown	De novo	De novo	De novo	Unknown	De novo (maternal)	De novo
Age at diagnosis	29 years	6 years	7 years	12 years	30 months	33 months	5 years	30 months
Growth	Wt 90% Ht 50–75% OFC >>98%	Wt 50%–75% Ht 10% OFC 95%	Wt 95% Ht 25% OFC 97%	Wt >95% Ht 97% OFC 95%	Wt 75% Ht 50% OFC 90%	Wt 25% Ht 25% OFC 50%	Wt 10% Ht 25% OFC <3%	Wt <3% Ht <3% OFC 50–97%
Motor development	Mild delay	Receives OT, PT	Moderate delay	Mild delay Walked at 18 m	Moderate delay Walked at 30 m	Walks with assistance, 33 m	Walked at 30 m	Walked at 30 m
Cognitive	IQ 47 at 15 y		Mod to severe ID	Moderate ID		Global developmental delay	Moderate ID	Global developmental delay
Speech		Significant expressive speech delay	2 words at 7 years	Non-verbal	20 words at 32 m	Babbles, blows raspberries	Few words at 2 years, lost with increased seizure activity; some gestures	Non-verbal
Face	Prominent philtrum, high palate, retrognathia	Broad mouth, broad nasal tip	Small mandible, widely spaced eyes	Prominent nasal bridge, full nasal tip, wide mouth, upslanting palpebral fissures	Non-dysmorphic	Pierre-Robin sequence, prominent forehead, small mouth	Long slim face, bilateral epicanthic folds, long smooth philtrum, thin upper vermillion, small mouth	Long face, high anterior hairline, downslanting palpebral fissures, epicanthic folds, long philtrum
Eyes	Strabismus, R amblyopia, high hyperopia	Chorioretinal coloboma, microphthalmia	Pseudo esotropia, L exotropia	Strabismus	Exotropia	Legally blind, L 20/540, R 20/80	Anisocoria with L pupil > R pupil
Ears	Low-set, dysplastic	Normal	PE tubes	Large fleshy earlobes, PE tubes	Conductive hearing loss	Moderate SNHL	Prone to ear infections	Conductive hearing loss, PE tubes
Brain, neurologic exam	MRI—3 small lesions of periventricular nodular heterotopia; one seizure at 25 years, EEG with paroxysmal activity R central region	Hypotonia	Normal exam	Focal seizures since 3 years, hypotonia	MRI normal; hypotonic with brisk reflexes, normal strength, wide based gait	MRI at 34 m showed subtle closed lip schizencephaly or grey matter heterotopia in the frontal lobe	MRI of brain, spine normal; L temporal lobe epilepsy with generalisation	Hypotonia, normal brain MRI
Psychiatric		Impulsivity, ADHD	Autistic disorder; poor social awareness	Autism, aggressive behaviours	Minimal eye contact	Happy personality	Happy personality, affectionate
Cardiac	Normal echo	Normal echo, ECG	PDA, PFO, PPS		Murmur, not evaluated	Normal	Normal echo, ECG, bradycardia during seizures	Normal
GI/GU	Normal abdominal, renal, pelvic US	Normal	Constipation			G-tube and fundoplication, starting to put food around her mouth	Imperforate anus	Normal
Skeletal	Brachydactyly type E	Lumbar lordosis, pes planus	Ligamentous laxity	Decreased carrying angle at elbows, pes planus, osteopenia, long tapered fingers, long toes	Long flexible flat feet with significant pronation	Long fingers	Pectus excavatum, long fingers and feet, joint laxity
Skin		Hypopigmented macules on abdomen and neck	Eczema, 3 CALs		2 CALs	Small CAL on left leg	Dimples over elbow, shoulders, sacrum, knees

Patient	9	10	11^†	12	13	14	15	Previously published
Coord (Mb)	70.73–73.74^*	72.22–73.81^*	72.20–74.04	72.20–75.95	73.32–73.59	73.38–73.88	75.12–75.60
Breakpoints	A–D	B–D	B-unique	B–E	Atypical	C–D	Atypical
Size (# genes)	3.01 Mb (>50 genes)	1.59 Mb (36 genes)	1.84 Mb (40 genes)	3.75 Mb (>50 genes)	266 kb (5 genes)	500 kb (11 genes)	480 kb (4 genes)
Inheritance	De novo	Unknown	De novo (maternal)	De novo	De novo	De novo	Unknown
Age at diagnosis	6 years	18 years	6 years	30 months	20 years	9.5 years	24 years
Growth	Wt 75% Ht 50%	Wt 50–75% Ht 25–50% OFC 90–97%	Wt >95% Ht 10% OFC 10–25%	Wt <3% Ht 3% OFC 25%	Wt >95% Ht 50–75% OFC 3%	Wt 3% Ht 3% OFC 10–15%	Wt <<3% Ht <<3% OFC <<<3%	8/18 normal 5/18 short 4/18 microcephaly 3/18 obese
Motor development	Moderate delay; walked at 24 m		Mild delay; walked at 24 m	Moderate delay; walked at 34 m	Mild delay	Normal	Severe delay	18/18 with developmental delays
Cognitive		Mild to moderate ID	Moderate global developmental delay		IQ 65	IQ 73	Severe ID	18/18 delayed
Speech	Non-verbal	Speaks in sentences	<12 words at 6 years	Some sounds, signs	First words at 4 years, reasonable speech after	First words at 1 year	Non-verbal	9/18 with severe speech delays
Face	High anterior hairline, full lips, epicanthi, flared medial eyebrows	Thick medial eyebrows, bilateral epicanthi, retrognathia	Brachycephaly, broad forehead, flared medial eyebrows		Round face, flared medial eyebrows	Telecanthus, bilateral epicanthi	Low anterior hairline, broad nasal tip, smooth philtrum, narrow palpebral fissures, bilateral epicanthi, flat zygomatic arches	13/18 high forehead
Eyes	Normal exam	Normal vision		Anisocoria, normal vision		Normal vision	Normal exam	6/18 strabismus
Ears	Low-set ears, PE tubes	Thick anteverted lobes, R profound and L progressive SNHL	Cup-shaped ears, PE tubes; moderate HL in one twin	PE tubes			Profound SNHL	13/18 ear malformations 4/18 hearing loss 5/16 recurrent infections
Brain, neurologic exam	MRI brain normal; hypotonic	MRI normal; tethered cord	Normal exam aside from delays	MRI normal; hypotonic		MRI—colpocephaly, mild dilatation of lateral ventricles, hypoplastic CC; normal EEG	Normal exam aside from delays and behaviour	7/18 abnormal MRI 10/18 hypotonia
Psychiatric	Autism		Food seeking behaviour		Obsessive compulsive behaviours	Poor attention, possible Asperger syndrome	Aggression, self stimulatory behaviour	4/18 ADHD, hyperactivity
Cardiac	Normal ECG		Pulmonic stenosis				Normal echo	4/18 cardiac malformation
GI/GU	Normal renal US, mild hypospadias			Constipation, gastro-oesophageal reflux disease			Cryptorchidism, hypospadias, bilateral inguinal hernias	6/18 hypospadias 5/18 microphallus
Skeletal	Thenar hypoplasia	Mild kyphoscoliosis, camptodactyly of 4th fingers, pronounced 5th finger brachydactyly with bilateral shortening of 5th middle phalanges, absent epiphyses, broad great toes with L hallux valgus	Small fingers, pes planus	Hyperextensible joints	Hyperextensible joints, short 5th metacarpals, mild cutaneous syndactyly of toes 2–3–4, small 5th toenails	Bilateral short 5th fingers, bone age delayed 1 year	Proximally placed thumbs, short 5th fingers, mild camptodactyly of fingers 3–4, broad feet with short phalanges, disproportionate short stature	8/18 joint laxity 6/18 kyphosis, scoliosis 7/18 thumb deformity
Skin			Acanthosis nigricans			2 CALs		3/18 CALs

↵* From clinical report—DNA unavailable for high-density array.
↵† One of monozygotic twins who both have the same 15q24 deletion and share the majority of clinical features listed.
ADHD, attention deficit hyperactivity disorder; CAL, café-au-lait macule; CC, corpus callosum; EEG, electroencephalogram; GI, gastrointestinal; GU, genitourinary; Ht, height; ID, intellectual disability; L, left; OFC, occipitofrontal circumference; OT, occupational therapy; PDA, patent ductus arteriosus; PE, pressure equalisation; PFO, patent foramen ovale; PPS, peripheral pulmonic stenosis; PT, physical therapy; R, right; SNHL, sensorineural hearing loss; US, ultrasound; Wt, weight.