Case Report
Clinical Report of a 17q12 Microdeletion with Additionally Unreported Clinical Features
Table 1
Clinical phenotype in our proband and previously reported patients with 17q12 deletion.
| | Our proband |
Moreno-De-Luca et al. (2010) [6] | Nagamani et al. (2010) [5] |
Dixit et al. (2012) [2] | Hinkes et al. (2012) [3] | George et al. (2012) [1] | Loirat et al. (2010) [4] |
| Clinical findings | | | | | | | | Mild facial dysmorphism | + | 9/9 | 2/9 | 2/3 | NR | NR | NR | Ptosis | + | NR | NR | 1/3 | NR | NR | NR | Long philtrum | + | NR | NR | 2/3 | NR | NR | NR | Long, narrow face | + | NR | NR | 0/3 | NR | NR | NR | Pectus deformity | + | NR | NR | 0/3 | NR | NR | NR | Joint laxity | + | NR | NR | 0/3 | + | NR | NR | Marfanoid body habitus | + | 0/9 | 0/9 | 0/3 | NR | 0/2 | 0/3 | Short stature or failure to thrive | — | 1/9 | 3/9 | 1/3 | NR | 0/2 | 0/3 | Kidney cysts/anomalies | — | Most* | 4/9 | 3/3 | + | 1/2 | 3/3 | Small pancreas | + | NR | NR | 0/3 | NR | NR | 0/3 | Splenomegaly | + | NR | NR | 0/3 | NR | NR | NR | Behavioral and cognitive features | | | | | | | | Autism spectrum disorder (ASD) | + | 6/9 | 0/9 | 1/3 | — | 0/2 | 3/3 | Developmental delay or intellectual disability | + | 8/9 | 8/9 | 3/3 | — | 2/2 | 3/3 | Seizures | — | 0/9 | 2/9 | 0/3 | — | NR | NR | Aggression | + | 2/9 | 2/9 | NR | — | NR | NR | Anxiety/disruptive behavior | + | 5/9 | NR | NR | — | 1/2 | NR | Hyperactivity | + | 2/9 | NR | NR | — | 1/2 | NR | Laboratory testing | | | | | | | | Neonatal hypercalcemia | NR | NR | NR | 3/3 | NR | NR | NR | Diabetes mellitus | — | 1/9 | NR | 0/3 | + | 0/2 | NR |
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+: feature is present, —: feature is absent, NR: not reported.
*Most of the 9 patients had kidney cystic anomalies but no specific number is given.
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