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Table 2 Clinical features of 11p11.12p12 duplication and PSS

From: 11p11.12p12 duplication in a family with intellectual disability and craniofacial anomalies

  The proband The old son ID: 257002 ID: 255428 ID: 291037 ID: 401234 ID: 371475 ID: 250532 ID: 412053 ID: 249534
Minimal coordinates, bp (GRCh38 or hg19) 40,231,033 40,242,898 38,678,843 42,964,378 43,224,952 46,885,060 49,616,675 48,088,490 47,266,966 49,811,971
Maxima coordinates, bp (GRCh38 or hg19) 50,762,504 50,589,224 46,999,736 50,181,861 48,642,974 50,821,348 50,723,082 48,870,325 47,439,621 50,421,230
Size 10.5 Mb 10.3 Mb 8.32 Mb 7.22 Mb 5.42 Mb 3.94 Mb 1.11 Mb 781.84 Kb 172.66 Kb 609.26 Kb
Inheritance/genotype De novo
Heterozygou
Maternally inherited
Heterozygou
Unknown
Heterozygous
De novo
Heterozygous
De novo
Heterozygous
De novo
Heterozygous
Paternally inherited
Heterozygous
Unknown
Heterozygous
Maternally inherited
Heterozygous
Unknown
Heterozygous
Pathogenicity/contribution    Likely pathogenic
Partial
Likely pathogenic Likely benign
None
Uncertain
Abnormality of head or neck           
Microcephaly +
Brachycephaly
High forehead
Broad forehead
Low anterior hairline + + +  
Synophrys + + +
Thick eyebrows + + +
Sparse eyebrows
Long eyelashes + +
Hypertelorism + + + + +
Hypotelorism
Narrow palpebral fissure
Upslanting/downslanting palpebral fissures
Almond-shaped palpebral fissure +
Left ptosis
Epicanthus/epicanthal folds
Esotropia
Ear anomalies +
Mid-facial hypoplasia
Narrowed nasal bridge
Depressed nasal bridge +
Broad nasal bridge +
Long philtrum + +
Short philtrum
High palate +
Bifid uvula +
Upturned corners of mouth  ±  +
Downturned mouth angle
Thick lower lip vermilion  ±  +
Thin upper lip vermilion +
Thin lips
Carious teeth + + +
Micrognathia + +
Short neck +
Triangular face
Abnormality of the nervous system           
Intellectual disability + + + + + +
Global developmental delay +
Hyperactivity + +
Cognitive impairment +
Speech delay + + + +
Autism + + +
Resting tremor +
Gait disturbance + +
Epilepsy/seizures ? ? +
Stereotypy + +
Abnormality of the skeletal/muscular system           
Biparietal foramina
Multiple exostoses
Clinodactyly
Abnormality of the hip joint +
Scoliosis +
Abnormality of digit + +
Spasticity +
Appendicular hypotonia + +
Other           
Short stature + + + +
Generalized hirsutism +
Breast anomalies + +
Atrial septal defect
EEG abnormality + +
Constipation +
Neonatal asphyxia +
Micropenis
  ID: 282366 ID: 285181 ID: 290203 ID: 289550 ID: 290135 ID: 331490 ID: 288560 ID: 307922 ID: 340117 PSS*
Minimal coordinates, bp (GRCh38 or hg19) 48,051,524 48,099,784 50,013,207 49,784,894 47,641,574 45,427,775 46,455,773 46,420,985 45,960,735 34,006,368 McCool C et al. [15]
Maxima coordinates, bp (GRCh38 or hg19) 48,445,343 48,643,003 50,821,348 49,976,474 47,743,809 46,158,994 46,791,939 46,787,571 46,949,520 51,387,923 Ferrarini A et al. [16]
Size 393.82 Kb 543.22 Kb 808.14 Kb 191.58 Kb 102.24 Kb 731.22 Kb 336.17 Kb 366.59 Kb 988.79 Kb 137 Kb
− 11 Mb
Inheritance/genotype Unknown
Heterozygous
Maternally inherited
Heterozygous
Maternally inherited
Heterozygous
Maternally inherited
Heterozygous
Paternally inherited
Heterozygous
Paternally inherited
Heterozygous
Maternally inherited
Heterozygous
Paternally inherited
Heterozygous
Unknown
Heterozygous
Pathogenicity/contribution Likely benign Likely benign Likely benign Uncertain Likely pathogenic Likely benign Likely benign
Uncertain
Uncertain
Abnormality of head or neck           
Microcephaly +
Brachycephaly +
High forehead +
Broad forehead +
Low anterior hairline
Synophrys
Thick eyebrows
Sparse eyebrows +
Long eyelashes +
Hypertelorism +
Hypotelorism +
Narrow palpebral fissure +
Upslanting/downslanting palpebral fissures + +
Almond-shaped palpebral fissure
Left ptosis +
Epicanthus/epicanthal folds + +
Esotropia +
Ear anomalies + +
Mid-facial hypoplasia +
Narrowed nasal bridge +
Depressed nasal bridge +
Broad nasal bridge +
Long philtrum
Short philtrum +
High palate +
Bifid uvula
Upturned corners of mouth
Downturned mouth angle +
Thick lower lip vermilion
Thin upper lip vermilion
Thin lips +
Carious teeth
Micrognathia +
Short neck
Triangular face + +
Abnormality of the nervous system           
Intellectual disability + + + + + +
Global developmental delay + + +
Hyperactivity
Cognitive impairment
Speech delay + + +
Autism +
Resting tremor
Gait disturbance
Epilepsy/seizures +
Stereotypy
Abnormality of the skeletal/muscular system           
Biparietal foramina +
Multiple exostoses +
Clinodactyly +
Abnormality of the hip joint
Scoliosis
Abnormality of digit + +
Spasticity
Appendicular hypotonia + +
Other           
Short stature
Generalized hirsutism
Breast anomalies
Atrial septal defect +
EEG abnormality +
Constipation +
Neonatal asphyxia
Micropenis +
  1. ‘−’ = the absence of the corresponding phenotype. ‘?’ = suspected seizures. ‘*’ = The clinical features of PSS in literature from reference [3,4,5,6,7,8,9,10,11,12,13,14,15,16,17]