Table 2.
Comparison of male sex chromosome aneuploidy disorders
| 47,XXY | 48,XXYY | 48,XXXY | 49,XXXXY | |
|---|---|---|---|---|
| Prevalence | 1:650–1:1000 males (5,6) | 1:18 000–1:40 000 males (3) | 1:17 000–1:50 000 males (4,5) | 1:85 000–1:100 000 males (4,5) |
| % of expected cases diagnosed in lifetime | 25–35% (42) | Unknown | Unknown | Unknown |
| Age at diagnosis | 6–10% diagnosed in prenatal period <5% identified prior to age 10 (42) |
2% diagnosed in prenatal period >70% identified prior to age 10 Mean age at diagnosis: 6.8 years (2) |
No data | No prenatal cases described 100% identified prior to age 10 Mean age at diagnosis: 4 months (9) |
| Stature | Tall stature Mean adult height 179–188 cm (5 feet 11 in feet to 6 feet 2 inches) (7,8) |
Taller than XXY Mean adult height 193 cm (6 feet 4 inches) (2,8) |
Tall stature Mean adult height 190 cm (6 feet 3 inches) (8) |
Short stature Limited data available (8,9) |
| Congenital malformations | Clinodactyly common Congenital malformations 18% (Inguinal Hernia, Cleft palate – occult, submucous) (7) |
Clinodactyly common (70%) Congenital malformations 56% (Inguinal Hernia, Cardiac, Radioulnar synostosis, Cleft palate, Clubfoot, Renal dysplasia) (2,10,27) |
Limited data Clinodactyly common Radioulnar synostosis, Inguinal hernia Likely similar to 48,XXYY and 49,XXXXY (7,10) |
Congenital malformations 50–100% (Radioulnar synostosis, Hip dysplasia, Genitourinary malformations, Cleft palate, Inguinal hernia, Clubfoot, Cardiac) (7,9,10) |
| Hypergonadotropic hypogonadism | Yes | Yes | Yes | Yes |
| Developmental and cognitive | Speech and motor delays (40–75%) 50–75% learning disabilities Intellectual disability rare Mean FSIQ 89–102 Verbal IQ < Performance IQ (7,26) |
Speech and motor delays (75–92%) 100% learning disabilities Intellectual disability 26% Mean FSIQ 70–80 Verbal IQ < Performance IQ (2,10,22) |
Speech and motor delays (>50%) 100% learning disabilities Intellectual disability (>50%) Mean FSIQ 40–75 Verbal IQ < Performance IQ (10,22) |
Speech and motor delays (100%) 100% learning disabilities Intellectual disability (>95%) Mean FSIQ 20–60 Verbal IQ < Performance IQ (9,10,22,30) |
| Parent of origin of extra chromosomes | 50% Maternal 50% Paternal (43) |
100% Paternal (44–47) | 50% Maternal 50% Paternal (47) |
100% Maternal (47) |