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| Patient number | Patient 1 | Patient 2 | Patient 3 | Patient 4 | Patient 5 |
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| Age (mo) | 60 | 96 | 180 | 36 | 72 |
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| Gender | Male | Female | Female | Male | Male |
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| Karyotype | 46,XY.ish del(4)(p16.3)(GS-36-P21−) | 46,XX.ish del(1)(p36.32)(RP11-465B22−)dn | 46,XX.ish der(10)t(7;10)(p22.3;q26.3)(GS-164-D18+;RP11-108K14−) | 46,XY.ish der(20)t(X;20)(p22.3;q13.3)(RP13-465B17+;RP11-11M20−) | 46,XY.ish der(3)t(X;3)(p22.3;p26.3)(RP13-465B17+;RP11-306H5−)dn |
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| Interpretation | 4p16.3 deletion | 1p36.3 deletion | 7p22.3 duplication and 10q26.3 deletion | Xp22.3 duplication and 20q13.3 deletion | Xp22.3 duplication and 3p26.3 deletion |
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| Growth | | Height and weight below the 3rd percentile | Height and weight below the 3rd percentile | | |
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| Head, face | Dolichocephaly, tall and prominent forehead | Triangular face with flat midface, prominent forehead | Microcephaly, low posterior hair line, webbed-neck | | Dolichocephaly, prominent forehead, fair hair, low posterior hair line |
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| Ocular region | | | Left esotropia | Mild hypertelorism | Upslanting eyebrows, mild hypertelorism, downslanting palpebral fissure |
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| Nose | Broad nasal bridge | | | | |
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| Ears | Prominent ears with thick helix, bilaterally | Simple ears | Low set ears | | |
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| Mouth region | | Cleft palate | Downturned corner of the mouth | | Downturned corner of the mouth |
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| Thorax, abdomen, extremities | Normal | Congenital heart defects including ventricular septal defect, patent ductus arteriosus, coarctation of the aorta | Cubitus valgus, simian crease on the right hand | Simian crease on both hands | Normal |
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| Other anomalies | Sacral dimple | | | | Shawl scrotum |
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| Level of ID | IQ ~ 28–30 (severe) | IQ < 24 (severe) | IQ ~ 39–41 (moderate) | IQ = 42 (moderate) | IQ < 30 (severe) |
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| Other tests | Abnormal EEG compatible with seizure disorder; normal hearing and thyroid function tests | Normal brain MRI; normal vision and hearing tests | | | Normal EEG and skull X-ray; normal hearing test |
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