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Table 1 Phenotypic features of patient with 17p13.3. class I microduplication

From: Identification of a rare 17p13.3 duplication including the BHLHA9 and YWHAEgenes in a family with developmental delay and behavioural problems

  Index case Bi et al., subject 1 Bi et al., subject 2 Bruno et al., case 9 Bruno et al., case 11
Age 8 years 6 years 8 years 2 years 14 years
Gender M M F M M
Gestational age (weeks) 37 NA At term At term At term
Birth weight (g) 3350 3900 4592 3400 3487
Birth length (cm) NA NA 57 51 N
Birth head circumference (cm) NA NA NA NA 50th centile
Postnatal growth retardation - - - - -
Overgrowth + (75th centile) + (90th centile) +3 SD - + (90-97th centile)
Feeding difficulties - - - - +
Muscle hypotonia + + + - +
Delay in motor function + + + Delay in fine motor skills +
Cognitive development Global delay Mild to moderate global delay Global delay Normal at 2 years Mild delay
Speech delay ++ ++ ++ + +
Neurobehavioural symptoms PDD-NOS Behavior problems, aggressive tendencies Behavior problems particularly with food Autism, hyperactivity Autism trait, facial tic
Repeated infection - NA NA - -
Facial features:
Face Triangular    Triangular N
Forehead Broad   Broad Broad N
Eyes Thick eyebrows, upslanting palpebral fissures Thick eyebrows, synophrys Upslanting palpebral fissures, synophrys N Broad, sparse eyebrows
Nose Squared upturned tip of the nose Squared, overhanging columella Squared N Squared, upturned tip
Ears Large Large Large Prominent Large, fleshy
Mouth Thin Thin upper lip Thin upper lip Prominent cupid bow Prominent cupid bow
Mandible Pointed chin NA Prominent chin Pointed chin Pointed chin
Hands/feet anomalies Short and stubby with low-set thumbs Large hands, small distal phalanges Large hands Bilateral groove between toe one and two Hallux valgus, sandal gap, abnormal toe nails
Associated malformations - - - - Genu valgum
MRI Corpus callosum hypoplasia and mild cerebellar hypoplasia NA Thin corpus callosum NP NP
  1. NA not available, N normal, PDD-NOS pervasive developmental disorder not otherwise specified, NP not performed.