Takayasu arteritis (TAK) is a rare type of large and medial vessel systemic vasculitis. A variety of factors are thought to play a role in the occurrence and development of TAK such as human leukocyte antigen-B52, autoimmunity, inflammation and environmental factors. 3q29 microdeletion syndrome is also a very rare inherited disease, which includes intellectual disability, growth retardation and neuropsychiatric disorders. Here, we present a case with concomitant TAK and 3q29 microdeletion syndrome. A 22-year-old woman presented to the emergency department with sudden bilateral vision loss and severe headache. During physical examination, the patient was noted to have a difference in blood pressure between extremities. Computed tomography angiography revealed vascular wall inflammation in the abdominal aorta. Based on clinical and radiographical findings, a diagnosis of TAK was made. Concurrently, the patient was found to have short stature and intellectual disability. A possible genetic etiology was sought out. Chromosome analysis showed a 1.5 Mb heterozygous deletion on chromosome 3 and a diagnosis of 3q29 microdeletion was made. Additional imaging also revealed a split cord in medulla spinalis along with hemivertebrae and fusion anomalies, neither of which were reported in TAK or 3q29 microdeletion cases in the literature.

3q29 microdeletion syndrome (OMIM 609425), first described in 2005, is a rare copy number variation (CNV), accompanied by various neurodevelopmental and psychiatric problems. Phenotypic features of the syndrome have not been fully characterized due to the new definition and rarity. Facial dysmorphology, musculoskeletal anomalies, cardiovascular abnormalities, gastrointestinal abnormalities, and dental abnormalities can be seen. A 28-month-old male patient was brought to the child and adolescent psychiatry clinic with a complaint of speech delay. He had mild dysmorphic symptoms. He was also sensitive to voice and often covered his ears. Balloon valvuloplasty was performed on the postnatal 28th day due to severe pulmonary stenosis. While karyotype was found to be normal, in array-Comparative genomic hybridization (aCGH), copy loss was detected in the long arm of chromosome 3 (arr[hg19] 3q29[196,209,689-197,601,344]x1), which contains approximately 1.4 Mb harboring 30 genes. Genetic counseling was given to the family of the patient who was diagnosed with 3q29 microdeletion syndrome. In conclusion, we present 3q29 microdeletion syndrome with global developmental delay (GDD), dysmorphic face, hyperacusis, scoliosis, and severe pulmonary stenosis. Performing genetic analysis in patients with developmental delay and congenital heart disease (CHD) for which the cause cannot be explained will prevent these rare diseases from being missed, and the characteristics of the diseases will be better characterized with the reported cases. 3q29 recurrent deletion is characterized by neurodevelopmental and/or psychiatric manifestations including mild-to-moderate intellectual disability (ID), autism spectrum disorder (ASD), anxiety disorders, attention-deficit/hyperactivity disorder (ADHD), executive function deficits, graphomotor weakness, and psychosis/schizophrenia. Age at onset for psychosis or prodrome can be younger than the typical age at onset in the general population. Neurodevelopmental and psychiatric conditions are responsible for the majority of the disability associated with the 3q29 deletion. Other common findings are failure to thrive and feeding problems in infancy that persist into childhood, gastrointestinal disorders (including constipation and gastroesophageal reflux disease [GERD]), ocular issues, dental anomalies, and congenital heart defects (especially patent ductus arteriosus). Structural anomalies of the posterior fossa may be seen on neuroimaging. To date more than 200 affected individuals have been identified. The diagnosis of the 3q29 recurrent deletion is established by identification of a heterozygous 1.6-Mb deletion at the approximate position of chr3:195998129-197623129 in the reference genome (NCBI Build 38). Treatment of manifestations: Early speech and language therapy to address speech delays; physical/occupational therapy as needed to address motor issues; individualized education program for school-age children; care by a child psychiatrist/psychologist as needed for neuropsychiatric disorders with transfer of care to an adult psychiatrist when appropriate; cognitive behavioral therapy to address social disability and/or anxiety; adaptive behavior as needed; applied behavioral analysis for ASD; medication as needed for anxiety, ADHD, or psychosis; standard treatment of seizures; feeding therapy and consideration of gastrostomy tube as needed; routine management of musculoskeletal issues, GERD, strabismus, dental issues, congenital heart defects, recurrent ear infections, and epistaxis; consider behavioral treatment for enuresis; implement healthy sleep hygiene; family support. Surveillance: At each visit: monitor developmental progress, educational needs, growth, nutrition, and feeding; assess for seizures, gastrointestinal issues, otitis, enuresis, and/or sleep issues. Annual assessment for neuropsychiatric manifestations and scoliosis; annual ophthalmology examination; dental examination every six months. Evaluation of relatives at risk: If one of the proband's parents has the 3q29 recurrent deletion, it is appropriate to test at-risk sibs of the proband in order to identify those who would benefit from close assessment/monitoring of developmental milestones (in children) and monitoring for neuropsychiatric manifestations (in children and adults). 3q29 recurrent deletion is an autosomal dominant disorder typically caused by a de novo deletion. If the proband represents a simplex case (i.e., a single affected family member) and neither parent has the 3q29 recurrent deletion or a balanced chromosome rearrangement, the recurrence risk to sibs is low (presumed to be <1%) but greater than that of the general population because of the possibility of parental mosaicism for the deletion. Each child of an individual with the 3q29 recurrent deletion has a 50% chance of inheriting the deletion. Once the 3q29 recurrent deletion has been identified in an affected family member, prenatal testing for a pregnancy at increased risk for the 3q29 recurrent deletion and preimplantation genetic testing are possible.