Peripheral blood lymphocytes | 48,XY, +21,+21 | 47,XX, +idic(21)(q22.1) | 47,XY,+psu idic(21)(q22.1) | 47,XY,+psu dic(21;21) (q22.11;q22.11) | 47,XY,+psu idic(21)(q22.1) | 47,XY,+psu idic(21)(q21.1) |
Parental chromosomes | Normal | Maternal studies normal | Normal | Normal | Normal | Normal |
Mother’s age | 24 years | 32 years | 33 years | 46 years | 34 years | 33 years |
Father’s age | 36 ears | NI | 32 years | 52 years | 33 years | 40 years |
Pregnancy | Spotting/cough | Normal | Bleeding | NI | ↓weight gain | Normal |
Gestation | 32 weeks | Term | 38 weeks | NI | 33 weeks | Term (39 weeks) |
Birth weight (g) | 2020 | 2940 | 3600 | 3300 | 1420 | 3690 g |
Age at referral | 4 days | 33 months | 29 months | 9.2 years | 18 month | 27 months |
Length | NI | 89.5 cm (25th) | 90 cm (50th) | NL range | 68 cm (<3rd) | 85 cm (3rd–10th) |
Weight | NI | 12.0 kg (10th) | 10.9 kg (10th) | NL range | 8.88 kg (<3rd) | 11 kg (3rd–10th) |
Head circumference | NI | 45.5 cm (<3rd) | 45.5 cm (<3rd) | NL range | 40.3 cm (<3rd) | 47 cm (<3rd) |
Motor development | NI | Normal | Unable to walk | Retarded | Unable to sit | Retarded |
Speech | NI | Single words | | | Babble | Single words |
Jackson Score | 9 | 10 | 7 | 1 | 12 | 5 |
Brachycephaly | + | + | + | + | + | − |
Upslanted palpebral fissures | + | + | + | − | − | + |
Epicanthal folds | + | − | − | − | + | − |
Brushfield spots | NI | − | + | − | − | (+) |
Flat nasal bridge | + | − | + | − | + | (+) |
Open mouth | NI | + | + | − | + | + |
Protruding tongue | NI | + | + | − | + | − |
Furrowed tongue | NI | − | − | − | − | − |
Ears small/low set | + | − | − | − | − | − |
Short neck | + | + | − | − | + | − |
Excess nuchal skin | + | − | − | − | + | − |
Short and broad hands | NI | + | − | − | + | − |
Short fifth finger | NI | + | − | − | + | (+) |
Transverse palmar crease | − | + | − | − | − | − |
Gap between 1st and 2nd toes | + | − | − | − | − | (+) |
Congenital heart defect | PDA | − | − | − | − | − |
Muscular hypotonia | + | + | + | NI | + | + |