Table 1. Phenotypic and genetics features in individuals with sex chromosome aneuploidy.
| Patient 1 | Patient 2 | Patient 3 | Patient 4 | Patient 5 | Patient 6 | Patient 7 | Patient 8 | Patient 9 | Patient 10 | Patient 11 | Patient 12 | Patient 13 | Patient 14 | |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Gender | Male | Male | Male | Male | Female | Female | Female | Female | Male | Male | Male | Male | Male | Male |
| Consanguinity | no | no | no | no | no | no | no | no | no | unknown | unknown | no | no | no |
| Karyotype | 47,XXY | 47,XXY | 47,XXY | 47,XXY | 47,XXX | 47,XXX | 47,XXX | 47,XXX | 47,XYY | 47,XYY | 47,XYY | 47,XYY | 47,XYY | 47,XYY |
| Karyotype performing period | antenatal | Postnatal | Postnatal | Antenatal | Antenatal | Postnatal | Postnatal | Postnatal | Postnatal | Postnatal | Postnatal | Antenatal | Postnatal | Postnatal |
| Developmental delay | +, mild | +, mild | +, mild | + | +, mild | +, mild | +, mild | +, mild | +, mild | + | + | +, mild | +, mild | +, mild |
| Speech delay | unknown | + | + | + | + | + | + | unknown | + | - | + | + | unknown | + |
| Learning difficulties | + | + | unknown | + | unknown | + | + | unknown | + | unknown | + | + | unknown | + |
| Psychiatric/Behavioral Features | − | + | + | − | − | − | + | − | + | + | − | + | + | − |
| Dysmorphic features | + | + | + | + | − | + | + | + | + | − | − | + | + | + |
| Congenital malformation | + | − | − | − | − | − | − | + | + | + | − | − | + | + |
| CNV | Xp11.3p11.23 duplication Xq11.23 duplication | 7q11.23 duplication | 17q12 duplication | 7q11.23 deletion | 16p11.2 duplication | 19q12q13.1 duplication | 16p13.11 duplication | 18p11.32 deletion | 4p12 duplication | 16p11.2 duplication | Xq21.31 duplication Xq21.31 duplication Xq21.31q21.32 duplication | Xp22.31 duplication | 15q13.2q13.3 deletion | 16p11.2 duplication |
| Chromosomal rearrangment boundaries (Hg 19) | chrX:g.(?_46,268,725)_(46,521,166_?)dup chrX:g.(?_48,507,137)_(48,636,027_ ?)dup | chr7:g.(?_72,726,578)_(74,139,390_?)dup | chr17:g.(34,585,698_34,611,352)_(36,248,910_36,290,301)dup | chr7:g.(?_73,428,837)_(73,643,684_?)del | chr16:g.(?_29,673,954)_(30,198,600_?)dup | chr19:g.(?_30,286,892)_(34,862,143_?)dup | chr16:g.(?_14,910,005)_(16,525,489_?)dup | chr18:g.(?_148,963)_(683,794_776,907)del | chr4:g.(?_47,506,373)_(47,905,283_?)dup | chr16:g.(?_29,258,477)_(28,492,125_?)dup | chrX:g.(?_88,489,310)_(90,507,890_?)dup; chrX:g.(?_90,740,429)_(91,420,193_?)dup; chrX:g.(?_91,539,487)_(92,357,367_?)dup | chrX:g.(?_6,467,006)_(8,131,810_?)dup | chr15:g.(?_31,014,508)_(32,914,140_?)del | ch16:g.(?_29,652,999)_ (30,197,290_?)dup |
| Inherited/de novo | Inherited (father) | Inherited (mother) | De novo | De novo | De novo | De novo | Inherited (mother) | De novo | Inherited (father) | Inherited (mother) | De novo | Inherited (mother) | Inherited (father) | Inherited (mother) |
| Parental phenotype | Father asymptomatic | Learning difficulties | Mother: epilepsy, no degree | Asymptomatic | Unknown | Mother asymptomatic, present in sister (asymptomatic) | Speech delay | Psychiatric disorder Congenital coronary artery anomalies | ||||||
| CNV classification | VOUS | CNV affecting function | CNV affecting function | CNV affecting function | CNV affecting function | Likely pathogenic | Likely pathogenic | VOUS | VOUS | CNV affecting function | VOUS | VOUS | CNV affecting function | CNV affecting function |
| Public database | DECIPHER: 337300 | DECIPHER: 263470 | DECIPHER: 314486 | LOVD database: #00103955 | DECIPHER: 253372 | DECIPHER: 293419 | DECIPHER: 261417 | DECIPHER: 307605 | DECIPHER: 337301 | DECIPHER: 269663 | DECIPHER: 258856 | DECIPHER: 337302 | DECIPHER: 337303 | DECIPHER: 317706 |