Trait | Reference | ||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|
8 Case 3 | 11 Case 1 | 11 Case 2 | 12 Case 1 | 12 Case 1 mother | 13 | 14 | 15 | 16 | 17 | 18 | |
Sex | M | F | F | F | F | M | F | F | F | F | F |
Eye anomalies | Orbital cyst | Glaucoma | Blindness | Lens dysp + glaucoma | |||||||
Sclerocornea/corneal opacity | + | + | + | − | + | + | + | + | + | − | |
Microphthalmia | Right>left | + | + | + | + | + | + | + Unilateral | − | + | − |
Lacunae | + | − | |||||||||
Pigmentary chorioretinopathy | Teratoma/lipoma? | − | |||||||||
Linear skin defects (face, neck) | + | + | + | + | + | + Sm muscle hamartoma | − | − | + | + | − |
CNS anomalies | Hydrocephalus | + | − | ||||||||
Callosal agenesis | + | + | + | − | − | ||||||
Infantile seizures | Hydrocephalus | + | |||||||||
Other | − | Forebrain atrophy | Mild retardation | Colpocephaly | Dandy-Walker | − | Cerebral cysts | ||||
Skeletal anomalies | − | − | − | − | − | Proximal thumbs | Right bifid thumb | ||||
Rib/vertebral | + | − | − | ||||||||
Growth retardation | + (3–10 p) | + | + | + | + | + | + | Normal stature | |||
Short stature | + | + (3–25 p) | + (5 p) | − | |||||||
Mental retardation | − | − | + | − | + | ||||||
Other | Hypospadias | 2nd/3rd toe syndactyly | Midline sacral dimple, anterior anus | Tetraplegia, hermaphroditism | Hearing loss, anterior/ imperforate anus, ASD, cryptorchidism, hypospadias | Dysmorphism, hypotonia | ASD, VSD, dysmorphism, hearing loss | Dysmorphism | |||
Karyotype | t(X;Y) | t(X;Y) | t(X;Y) | t(X;Y) | t(X;Y) | t(X;Y) | t(X;3) | t(X;3) | t(X;2) | +der(X) | t(X;3) |
Deletion Xp-pter | p22.2 | p22.3 | p22.3 | p22.3? | p22.3? | p22.3? | p22.2 | p22.2 | p22.1 | p22.3 | p22.3 |
Origin of disrupted X | pat | pat | pat | mat | pat | pat | ND | mat | mat | ND | ND |
Inactivation pattern | ND | der(X) | ND | ND | ND | ND | der(X) | ND | ND | der(X) | Mosaic |
ND: not done, mat: maternal, pat: paternal, del: deletion, der: derivative.