Case Report
An Atypical 15q11.2 Microdeletion Not Involving SNORD116 Resulting in Prader–Willi Syndrome
Table 1
Clinical features present in the patient (10 points).
| | Criteria from Holm et al., 1993 | Criteria to prompt DNA testing from Gunay-Aygun et al., 2001 | Present case |
| Major criteria (1 point) | Neonatal/infantile central hypotonia, poor suck | X | X | Feeding problems in infancy requiring special techniques | | X | Excessive/rapid weight gain between 1-6yo | | | Characteristic facial features | | X | Hypogonadism | X | | Global developmental delay | X | X | Hyperphagia/food foraging, central obesity | X | X | Deletion 15q11-13 | | |
| Minor criteria (1/2 point) | Decreased fetal movement/infantile lethargy/weak cry in infancy | | X | Characteristic behavior challenges | X | X | Sleep disturbance/sleep apnea | | X | Short stature | | X | Hypopigmentation | | X | Small hands/feet | | X | Narrow hands | | | Eye abnormalities | | X | Thick viscous saliva | | X | Speech articulation defects | | X | Skin picking | | X |
| Supportive findings | High pain threshold | | | Decreased vomiting | | X | Temperature instability/sensitivity | | | Scoliosis/kyphosis | | | Early adrenarche | | | Osteoporosis | | | Unusual skill with jigsaw puzzles | | | Normal neuromuscular studies | | |
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Modified from Holm et al. 1993 (8 points needed to meet diagnostic criteria, patient score = 10) [ 4, 5]. |