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Table 1 Phenotype and molecular comparison

From: Clinical and molecular characterization of a patient with interstitial 6q21q22.1 deletion

  Our case Case n.6 Rosenfeld et al. 2012 Decipher n. 257884 Decipher n. 2498
Gender M M F ND
Age 12 years 12 years 5 years ND
Deletions (UCSC hg.19) chr6:111,884,640-116,594,641 chr6:113,083,368-114,343,715 chr6:113,044,405-114,771,988 chr6:113,106,907-115,325,935
Inheritance Mother normal/father not available Unknown De novo ND
Weight 50-75th 55th −2 DS (14 kg) +0.4 SD
Height 75-90th 50th −1 DS (104 cm) −1.2 SD
OFC 3rd-10th −1,4 SD −2 DS (48 cm) −7.2 SD
DD + + + +
ID + + + +
Hypotonia - - Moderate Right hemiplegia with brisk reflexes and spasticity
Brain Malformation Cerebellar vermis hypoplasia - Corpus callosum hypoplasia Reduction in volume in the left hemi cranium with cystic cerebromalacia.
Cortical dysplasia Thin corpus callosum
Other neurological features - - Dysexecutive syndrome Epilepsy
Ophtalmologic features Exotropia, bilateral myopia Strabismus Strabismus (exophoria/exotropia) Moderate cerebral visual impairment
Dysmorphic features Hypertelorism, wide and flat nose Hypertelorism, wide nasal bridge, narrow nasal tip, long nose Triangular face, retrognathism, low set ears, smooth philtrum Hypertelorism, prominent simple ears
Limbs - Long and slender fingers and toes ND -
Skeletal features Pectus excavatum, chest asymmetry, thoracic scoliosis and vertebral rotation Pectus carenatum ND Required reconstruction of right hip probably secondary to hemiplegia
Muscle features Absence of the pectoralis major and minor muscles (Poland Syndrome) - ND -
Other - Hyperextensible joints   Constipation
Deleted region chr6:111,884,640-116,594,641 chr6:113,190,061-114,450,408 chr6:113,044,405-114,771,988 chr6:113,106,907-115,325,935
Genes TRAF3IP2, FYN, WISP3, TUBE1, LAMA4, MARCKS, HDAC2, HS3ST5, FRK, COL10A1 MARCKS, HDAC2, HS3ST5 MARCKS, HDAC2, HS3ST5 MARCKS, HDAC2, HS3ST5
  1. ND = not determined; OFC = Occipitofrontal Circumference; DD = developmental delay; ID = intellectual disability.