Table 1.
Clinical and Molecular Data Related to Patients with WHS and Microdeletions[Note]
Patientand Sex | Age atDelivery(wk) | BirthWeight(g) | Age atExamination(years) | GrowthDelay | CharacteristicFace | MR | Seizures | Microcephaly | CleftPalate | Age at LanguageAcquisition, Walking(mo)a | DeletionSize(Mb) |
43, F | 38 | 2,075 | 1 | + | + | + | +b | + | + | N/A | 3.5c |
44, M | 40 | 2,430 | 11 | + | + | + | + | + | − | N/A | 3.5 |
13, M | 40 | 2,230 | 12 | + | + | + | + | + | − | 20 | 2.6 |
46, F | 40 | 2,650 | 1 | + | + | + | + | + | + | N/A | 2.6 |
14, M | 40 | 2,600 | 10 | + | + | + | + | + | − | 28 | 2.5d |
26, F | 39 | 2,600 | 7 | + | + | + | + | + | − | 48 | 2.5 |
15, F | 40 | 2,600 | 10 | + | + | + | + | − | − | 60 | 2.2 |
MG, M | 40 | 2,500 | 1 | + | + | + | + | − | − | N/A | 1.9 |
Note.— Patients are listed according to the extent of the deletion.
N/A = not available because of very early age at examination.
Electroencephalographic anomalies.
der(4)(pter→p16.3:10p15.3→pter).
+ dup(4)(p16.1p16.3).