Table 1. Phenotypic features of patients from 1 to 6.
| Case 1 | Case 2 | Case 3 | Case 4 | Case 5 | Case 6 | Literature (n=5)21, 22, 23 | Literature (n=8)25, 26, 27, 28 | |
|---|---|---|---|---|---|---|---|---|
| Rearrangement | der(Y)t(X;Y) | der(Y)t(X;Y) | der(Y)t(X;Y) | der(Y)t(X;Y) | recXqXp | recXqXp | der(Y)t(X;Y) | recXqXp |
| Size (Mb) | 0.5 | 2.6 | 2.1 | 15.5 | 13.5 (Xq dup) 5.6 (Xp del) | 5.8 (Xq dup) 6.4 (Xp del) | ||
| Age | 6 years | 22 months | 4 years | 2 years | 2 years | 4 years | n (%) | n (%) |
| ‘Classical MECP2 duplication' symptoms: | ||||||||
| MR/DD | + | + | + | + | + | + | 5/5 (100%) | 8/8 (100%) |
| Recurrent infections | − | + | + | + | + | + | 2/2 (100%) | 7/7 (100%) |
| Epilepsy | − | − | − | − | − | − | 3/4 (75%) | 1/4 (25%) |
| Axial/appendicular hypotonia | + | + | + | + | + | + | 4/4 (100%) | 8/8 (100%) |
| Feeding difficulty | − | + | + | − | + | + | 3/3 (100%) | 5/5 (100%) |
| Constipation | + | + | − | + | − | − | ? | 3/3 100% |
| GER | + | − | − | + | + | − | ? | ? |
| Cryptorchidism | − | + | − | + | + | + | 4/4 (100%) | 7/8 (88%) |
| Microcephaly | Macrocephaly | Borderline | − | + | + | + | 5/5 (100%) | 8/8 (100%) |
| Repetitive behaviors | + | − | + | − | + | + | ? | ? |
| Hand stereotypes | + | − | + | − | + | + | ? | 1/1 (100%) |
| Strabismus | − | + | + | − | + | + | ? | 1/5 (20%) |
| Language | Nonverbal; gestures | Nonverbal | Nonverbal; gestures | Nonverbal | Nonverbal | Nonverbal | 4/4 (100%) Nonverbal | 3/3 (100%) Nonverbal |
| Other medical problems | R-hearing loss; ‘overheats' aberrant L-sub-clavian artery | Horner's sydrome; bronchomalacia/tracheomalacia; meconium ileus | Eczema; L-Erb's palsy; torticollis; asthma | Hypothyroidism; Anemia | G-tube/Nissen; Cold lower extremities; oxygen requirement; Ichthyosis; laryngomalacia; Bicuspid aortic valve, PDA, and PFO | Failure-to-thrive; G-tube until 3years; bicuspid aortic valve, ASD | ||
Abbreviations: ASD, atrial septal defect; DD, developmental delay; MR, mental retardation; GER, gastroesophageal reflux; L, left; PDA, patent ductus arteriosus; PFO, patent foramen ovale; R, right.