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. 2011 Dec 17;49(2):110–118. doi: 10.1136/jmedgenet-2011-100499

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.