22q13CNV Type: Deletion
Largest CNV size: N/A bp
Statistics Box:
Number of Reports: 1
Number of Reports: 1
Summary Information
A de novo mosaic deletion within this region was identified in a female patient with developmental delay and epilepsy; while the exact breakpoints and size of this deletion were not reported, its minimal gene content includes SHANK3 (Guilherme et al., 2014).
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
Clinical, cytogenetic, and molecular characterization of six patients with ring chromosomes 22, including one with concomitant 22q11.2 deletion.
Deletion
Minor Reports
Title
Author, Year
Report Class
CNV Type
No Minor Reports
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
guilherme_14_DD/EP/ASD_discovery_cases
Patients with deletions in ring chromosome 22
5
Four cases with developmental delay (with or without epilepsy/seizures); one case with autism (DSM-IV criteria) and epilepsy
Range, 1-24 yrs.
40% Male
N/A
1
0
1
Controls
No Control Data Available
Cases
Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
guilherme_14_DD/EP/ASD_discovery_cases-case6
21 yrs.
F
DD and epilepsy
Birth/neonatal history: pregnancy complicated by hyperemesis and domestic violence; born at term by vaginal delivery; neonatal data not available. Developmental milestones: severely delayed neuropsychomotor development (attended special class). Motor and musculoskeletal evaluation: short fingers and metacarpals, single palmar crease on right hand, transition crease on left hand, short toes, small toenails, partial syndactyly of 2nd and 3rd toes of the right foot and of the four toes on the left foot. Behavioral/psychiatric evaluation: presented with infantile but hypersexual behavior. Epilepsy/seizures: yes (controlled by carbamazepine). Dysmorphic features: epicanthal folds, high palate, mottled pattern of hypochromic maculae over dorsum, abdomen and lower limbs (suggestive of pigmentary mosaicism of Ito). Growth parameters: weight of 95 kg (>97th %ile), height of 163 cm (50th-75th %ile), BMI of 35.8, and head circumference of 57.5 cm (97th %ile) at age of 21 years. Family history: first child of healthy non-consanguineous parents; three healthy maternal half-brothers and two healthy parental half-siblings; mother had recurrence of neonatal deaths in her sibship. Note: Deletion breakpoints could not be defined by SNP array, presumably due to low rate of mosaicism.
N/A
N/A
N/A
Unknown
Deletion (mosaic)
Yes
Controls
No Control Data Available
No Animal Model Data Available