Decipher 271532 | Decipher 4688 | Decipher 355915 | Quintela I et al., 2015 Patient 2 [8] | This report | |||
---|---|---|---|---|---|---|---|
Proximal breakpoint (hg19) | 72,006,446 | 67,129,189 | 73,303,180 | 68,207,272 | 72,647,749 | ||
Distal breakpoint (hg19) | 76,140,123 | 74,425,009 | 74,459,331 | 75,021,494 | 74,208,199 | ||
Cytoband | 4q13.1q13.3 | 4q13.1q13.3 | 4q13.3 | 4q13.1q13.3 | 4q13.3 | ||
Size of deletion, Mb | 4.13 | 7.30 | 1.16 | 6.81 | 1.56 | ||
Inheritance | De novo | De novo | NA | De novo | Maternal | Maternal | NA |
Gender | F | M | F | F | F | F | F |
Age | NA | NA | NA | 11 yr. | 19 yr. | 14 yr. | 43 yr. |
Neurologic | ID | ID, delayed speech and language development | ID, autism | Mild ID | Mild ID | Mild ID, cavum septi pellucidi | Mild ID |
Head and face | NA | NA | NA | Triangular face, broad forehead, pointed chin with chin dimple | Microcephaly, coarse face | Coarse face | Coarse face |
Eyes | NA | Strabismus | NA | Slightly upslanted palpebral fissures | Upslanted palpebral fissures | Upslanted palpebral fissures, hypermetropic astigmatism, strabismus | Hypotelorism |
Ears | NA | NA | NA | N | Mild neurosensory hearing impairment | Mild neurosensory hearing impairment | Neurosensory hearing impairment |
Nose, mouth | NA | NA | NA | Broad nasal tip | Micrognathia | Micrognathia | NA |
Skeletal | NA | Short stature, abnormality of the lower limb, clinodactyly of the 5th finger | NA | Short stature | Short stature, short neck, thoracolumbar scoliosis | Short stature short neck, thoracolumbar scoliosis, malformed vertebrae, clinodactyly of toes | Short stature, spine deformation, osteochondrosis, stenosis of the spinal canal |
Cardio-vascular | NA | NA | NA | N | Abnormality of the aortic valve, atrial septal defect with atrial septal aneurysm | Abnormality of the aortic valve | Atrial septal defect, primary arterial hypertension, hypertensive heart disease |
Endocrine | NA | NA | NA | NA | Delayed puberty | Hypopituitarism, delayed puberty | NA |
Genito-urinary | NA | NA | NA | NA | NA | Hypoplasia of the right kidney | NA |