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Table 1 Chronology of proband’s signs and symptoms

From: Dystonia, facial dysmorphism, intellectual disability and breast cancer associated with a chromosome 13q34 duplication and overexpression of TFDP1: case report

1976 Born by cesarean section at full term.
1976-1986 Did not sit until after 6 months of age and did not walk until 18 months of age.
Enrolled in special education classes in the first grade.
Developmental delay, Marfanoid features, dysmorphic features, strabismus, mitral valve prolapse were described by pediatrician.
2003-2007 Appearance of psychiatric symptoms including psychosis treated with valproic acid, risperidone and buproprion.
2008 Movement disorder becomes manifest (choreoathetotic and dystonic movements in the left arm along with      blepharospasm) and is treated with levetiracetam, carbamazepine, oxcarbazepine, lorazepam, biperiden, haloperidol,      aripiprazole, topiramate, chlorpromazine, carbidopa/levodopa, baclofen, amantadine, trihexyphenidyl, botulinum toxin      injections, and tetrabenazine.
2009 Despite medical treatment and discontinuation of dopamine blocking drugs, neurological condition progressively worsens      with hyperkinetic movements appearing in the right arm and trunk.
2010 Mucinous carcinoma of the right breast diagnosed and treated with a modified radical mastectomy with skin preservation      and immediate reconstruction with breast prosthesis.
Histology report shows no residual tumor at tissue margins and lymph nodes free of tumor.
Post-operative treatment with tamoxifen.
Worsening of the dystonia with appearance of truncal dystonia including painful retrocollis.
Difficulty staying upright for even short periods.
Weight loss of 25 pounds.
2011 Implantation of bilateral globus pallidus internus electrodes for deep brain stimulation.
Marked improvement of dystonia 4 months after surgery.
Subject able to feed herself, sit upright and walk.
Significant improvements in neck pain.
Revision of left and right pulse generators, and replacement of left extension cable after lead fracture due to twiddler      syndrome (obsessively moving the generators in the chest leading to device fracture).
2013 Facial dystonia markedly improved. Sustained control of dystonia with deep brain stimulation.