Table 2

Clinical features of patients with deletions of 15q24

Coord (Mb)70.06–72.4370.73–73.3370.73–73.3370.73–73.3370.73–73.3370.73–73.8970.73–73.8970.73–73.89
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)
InheritanceDe novo (maternal)UnknownDe novoDe novoDe novoUnknownDe novo (maternal)De novo
Age at diagnosis29 years6 years7 years12 years30 months33 months5 years30 months
  • 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 developmentMild delayReceives OT, PTModerate delay
  • Mild delay

  • Walked at 18 m

  • Moderate delay

  • Walked at 30 m

Walks with assistance, 33 mWalked at 30 mWalked at 30 m
CognitiveIQ 47 at 15 yMod to severe IDModerate IDGlobal developmental delayModerate IDGlobal developmental delay
SpeechSignificant expressive speech delay2 words at 7 yearsNon-verbal20 words at 32 mBabbles, blows raspberriesFew words at 2 years, lost with increased seizure activity; some gesturesNon-verbal
FaceProminent philtrum, high palate, retrognathiaBroad mouth, broad nasal tipSmall mandible, widely spaced eyesProminent nasal bridge, full nasal tip, wide mouth, upslanting palpebral fissuresNon-dysmorphicPierre-Robin sequence, prominent forehead, small mouthLong slim face, bilateral epicanthic folds, long smooth philtrum, thin upper vermillion, small mouthLong face, high anterior hairline, downslanting palpebral fissures, epicanthic folds, long philtrum
EyesStrabismus, R amblyopia, high hyperopiaChorioretinal coloboma, microphthalmiaPseudo esotropia, L exotropiaStrabismusExotropiaLegally blind, L 20/540, R 20/80Anisocoria with L pupil > R pupil
EarsLow-set, dysplasticNormalPE tubesLarge fleshy earlobes, PE tubesConductive hearing lossModerate SNHLProne to ear infectionsConductive hearing loss, PE tubes
Brain, neurologic examMRI—3 small lesions of periventricular nodular heterotopia; one seizure at 25 years, EEG with paroxysmal activity R central regionHypotoniaNormal examFocal seizures since 3 years, hypotoniaMRI normal; hypotonic with brisk reflexes, normal strength, wide based gaitMRI at 34 m showed subtle closed lip schizencephaly or grey matter heterotopia in the frontal lobeMRI of brain, spine normal; L temporal lobe epilepsy with generalisationHypotonia, normal brain MRI
PsychiatricImpulsivity, ADHDAutistic disorder; poor social awarenessAutism, aggressive behavioursMinimal eye contactHappy personalityHappy personality, affectionate
CardiacNormal echoNormal echo, ECGPDA, PFO, PPSMurmur, not evaluatedNormalNormal echo, ECG, bradycardia during seizuresNormal
GI/GUNormal abdominal, renal, pelvic USNormalConstipationG-tube and fundoplication, starting to put food around her mouthImperforate anusNormal
SkeletalBrachydactyly type ELumbar lordosis, pes planusLigamentous laxityDecreased carrying angle at elbows, pes planus, osteopenia, long tapered fingers, long toesLong flexible flat feet with significant pronationLong fingersPectus excavatum, long fingers and feet, joint laxity
SkinHypopigmented macules on abdomen and neckEczema, 3 CALs2 CALsSmall CAL on left legDimples over elbow, shoulders, sacrum, knees
Patient9101112131415Previously published
Coord (Mb)70.73–73.74*72.22–73.81*72.20–74.0472.20–75.9573.32–73.5973.38–73.8875.12–75.60
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)
InheritanceDe novoUnknownDe novo (maternal)De novoDe novoDe novoUnknown
Age at diagnosis6 years18 years6 years30 months20 years9.5 years24 years
  • 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 delayNormalSevere delay18/18 with developmental delays
CognitiveMild to moderate IDModerate global developmental delayIQ 65IQ 73Severe ID18/18 delayed
SpeechNon-verbalSpeaks in sentences<12 words at 6 yearsSome sounds, signsFirst words at 4 years, reasonable speech afterFirst words at 1 yearNon-verbal9/18 with severe speech delays
FaceHigh anterior hairline, full lips, epicanthi, flared medial eyebrowsThick medial eyebrows, bilateral epicanthi, retrognathiaBrachycephaly, broad forehead, flared medial eyebrowsRound face, flared medial eyebrowsTelecanthus, bilateral epicanthiLow anterior hairline, broad nasal tip, smooth philtrum, narrow palpebral fissures, bilateral epicanthi, flat zygomatic arches13/18 high forehead
EyesNormal examNormal visionAnisocoria, normal visionNormal visionNormal exam6/18 strabismus
EarsLow-set ears, PE tubesThick anteverted lobes, R profound and L progressive SNHLCup-shaped ears, PE tubes; moderate HL in one twinPE tubesProfound SNHL
  • 13/18 ear malformations

  • 4/18 hearing loss

  • 5/16 recurrent infections

Brain, neurologic examMRI brain normal; hypotonicMRI normal; tethered cordNormal exam aside from delaysMRI normal; hypotonicMRI—colpocephaly, mild dilatation of lateral ventricles, hypoplastic CC; normal EEGNormal exam aside from delays and behaviour
  • 7/18 abnormal MRI

  • 10/18 hypotonia

PsychiatricAutismFood seeking behaviourObsessive compulsive behavioursPoor attention, possible Asperger syndromeAggression, self stimulatory behaviour4/18 ADHD, hyperactivity
CardiacNormal ECGPulmonic stenosisNormal echo4/18 cardiac malformation
GI/GUNormal renal US, mild hypospadiasConstipation, gastro-oesophageal reflux diseaseCryptorchidism, hypospadias, bilateral inguinal hernias
  • 6/18 hypospadias

  • 5/18 microphallus

SkeletalThenar hypoplasiaMild kyphoscoliosis, camptodactyly of 4th fingers, pronounced 5th finger brachydactyly with bilateral shortening of 5th middle phalanges, absent epiphyses, broad great toes with L hallux valgusSmall fingers, pes planusHyperextensible jointsHyperextensible joints, short 5th metacarpals, mild cutaneous syndactyly of toes 2–3–4, small 5th toenailsBilateral short 5th fingers, bone age delayed 1 yearProximally 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

SkinAcanthosis nigricans2 CALs3/18 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.