7p22.2-p21.1CNV Type: Duplication
Largest CNV size: 16500000 bp
Statistics Box:
Number of Reports: 1
Number of Reports: 1
Summary Information
A de novo duplication within this region was identified in a 3-year-old male proband presenting with ASD and global developmental delay (Udayakumar et al., 2015).
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
De Novo Duplication of 7p21.1p22.2 in a Child with Autism Spectrum Disorder and Craniofacial Dysmorphism.
Duplication
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
udayakumar_15_ASD/DD_discovery_cases
Three-year-old male child presented to the Sultan Qaboos University Hospital (Muscat, Oman) in January 2012
1
Case diagnosed with ASD (diagnostic tools N/A) based on clinical and multidisciplinary evaluations; communication and reciprocal social interaction scores fell within range of ASD. Case also presented with global developmental delay, craniofacial dysmorphism, hypotonia, and bilateral cryptorchidism
3 yrs.
Male
16500000
0
1
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
udayakumar_15_ASD/DD_discovery_cases-case1
3 yrs.
M
ASD and developmental delay
Case diagnosed with ASD (diagnostic tools N/A) based on clinical and multidisciplinary evaluations; communication and reciprocal social interaction scores fell within range of ASD. Birth/neonatal history: birth weight of 2110 g. Developmental milestones: delayed milestones; head control at age of 12 months, sitting with support at 14 months, standing with support by two years, and walking by age of 3 years. Language and communication evaluation: would not speak spontaneously, rarely vocalized directly to either examiners or parents; very limited non-verbal communication (gestures, smiling, pointing or using other body parts), very limited range of distinct facial expressions; methods of communication were not coordinated with eye contact; showed limited enjoyment during interactions. Motor and musculoskeletal evaluation: persistent odd hand positioning in the form of bilateral wrist flexion. Behavioral/psychiatric evaluation: did not request objects, was not interested in showing objects to others; showed no interest in symbolic/pretend play but demonstrated unusual sensory interest in materials (e.g. licking objects); stereotypical motor repetitive behavior (repetitive hand flicking); no disruptive, aggressive, or self-injurious behaviors noted. Brain imaging: unremarkable brain MRI. Vision and hearing evaluation: hypermetropic astigmatism and slightly enlarged cup-to-disc ratio indicative of glaucoma; normal hearing test. Dysmorphic features: high forehead, prominent metopic ridge, brachycephalic and plagiocephalic closed anterior fontanelle, low v-shaped posterior hairline, well-arched thin eyebrows, hypoplastic alae naris, narrow anteverted nares, bulbous nasal tip, ears with prominent crus and overfolded helices, short philtrum, prominent lower lip, micrognathia, bilateral cryptorchidism; coronal sutures were open but appeared narrow. Growth parameters: height 50th-75th %ile, weight 50th-75th %ile, head circumference 25th %ile. Family history: first child born to a healthy Omani consanguineous couple (first cousins); mother was 24 years of age and fatehr was 25 years of age. Karyotype: 46,XY,dir dup(7)(p21p22).
Global developmental delay
2811886
19358897
16500000
Unknown
Duplication
Yes
Controls
No Control Data Available
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
udayakumar_15_ASD/DD_discovery_cases-case1
FISH, aCGH (OGT 8x60k)
De novo
Duplication interval contained 67 genes; precise CNV gene content N/A due to lack of genome build
Controls
No Control Data Available
No Animal Model Data Available