From: NSDHL-containing duplication at Xq28 in a male patient with autism spectrum disorder: a case report
Patient NO | Sex | Chromosome | Size | Inheritance | Gene number | Phenotype |
---|---|---|---|---|---|---|
258546 | 46XY | X | 73.22 kb | From an unaffected mother | 2 | Autism Spectrum Disorder |
151958561-152031784 | ||||||
268469 | 46XY | 8 | 273.31 kb | From a normal parent | 1 | Obesity Low anterior hairline Intellectual disability |
13745710-14028750 | ||||||
X | 283.04 kb | From a normal parent | 11 | |||
151897058-152170367 | ||||||
251730 | 46XX | X | 1.33 Mb | De novo | 45 | Bulbous nose Short palm Muscular hypotonia |
151901372-153232466 | ||||||
288269 | 46XX | X | 63.38 kb | Unknown | 1 | Global developmental delay |
122322494-1223858575 | ||||||
X | 609.21 kb | Unknown | 18 | |||
151492204-152101413 | ||||||
290161 | 46XY | 1 | 89.38 kb | Unknown | 1 | Hypoplastic male external genitalia Obesity |
225217624-225307001 | ||||||
16 | 609.48 kb | Unknown | 32 | |||
29586128-30195608 | ||||||
X | 160.02 kb | Unknown | 3 | |||
151958995-152119014 | ||||||
249396 | 46XY | X | 11.55 Mb | De novo | 122 | Low-set ears Hypertelorism Cryptorchidism Micrognathia Muscular hypotonia Intellectual disability Prenatal short stature |
140664743-152216545 |