Table 2 Clinical features of subjects with deletions involved in chromosome Xp22.33p22.32
Reference | Chen et al. [40] | Chen et al. [41] | Cho et al. [42] |  | Schwinger et al. [43] | D’Ambrosio et al. [44] |  |
|---|---|---|---|---|---|---|---|
case 1 | case 2 | case 3 | case 4 | case 5 | case 6 | our case | |
Gender/age | female/prenatal | female/prenatal | female/8Â years, 9Â months | female/11Â years, 10Â months | female/10Â years old | female/11Â year, 9Â months | fetus/prenatal |
Size/location | 4.56Â Mb/Xp22.33p22.32 | 213.9Â kb/Xp22.33 | Xp22.33-Xp22.12 | Xp22.33-Xp22.12 | Xp22.33-Xp22.32 | 21.26Â Mb/Xp 22.33p22.12 | 5.4Â Mb/Xp22.33p22.32 |
Height | 23.5Â cm | 49.5Â cm | 118.6Â cm | 137.9Â cm | 127.5Â cm | 136.5Â cm | NA |
Short stature |  +  | - |  +  |  +  |  +  |  +  | NA |
Inheritance/Family history of short stature | NA |  +  |  +  |  +  |  +  | - | NA |
Dysmorphic features |  +  | - | - | - | - | NA | NA |
Maternal height | 147Â cm | 150Â cm | 148.7Â cm | 148.7Â cm | 150Â cm | 143.8Â cm | 150Â cm |
Paternal height | 170Â cm | 170Â cm | 170Â cm | 170Â cm | NA | 165Â cm | NA |
Karyotype | 46,Y,der(X)t(X;?)(p22.31;?) | 46,XY | 46,X,del(X)(p22.1) | 46,X,del(X)(p21.3) | 46,X,del(X)(p22.3) | 46, X,del(X)p | 46, XN, add(X) (p22.2) |
Other | Prenatal ultrasound at 20Â weeks of gestation revealed a hypoplastic left heart; low-set ears; short limbs | Â | Relatively small hands; subtly short 4th and 5th metacarpal bones; slightly delayed bone ages | Relatively small hands; subtly short 4th and 5th metacarpal bones; slightly delayed bone ages | Â | Foreshortening of the 4th and borderline length of the 5th metacarpal bones with positive metacarpal sign for TS; slightly delayed bone ages; abnormally large and deformed ears with underdeveloped auricles; overlapped and malformed teeth; low posterior hairline; mildly flexible joints; pes planus; breast and genitalia exam were compatible with Tanner stage III | Prenatal ultrasound showed multiple congenital malformations, hydrocephalus, and enlarged gallbladder |