11p14.3-p14.1CNV Type: Deletion
Largest CNV size: 6600000 bp
Statistics Box:
Number of Reports: 1
Number of Reports: 1
Summary Information
Summary statement in development
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
11p14.1 microdeletions associated with ADHD, autism, developmental delay, and obesity.
Deletion
Minor Reports
Title
Author, Year
Report Class
CNV Type
No Minor Reports
Cases
Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
shinawi_11_ADHD_discovery_cases-patient1
45 mo.
M
ADHD
Diagnosed with ADHD, Combined Type at 7 months. No diagnosis of autism (based on direct observations & reports from mother). No motor delay, moderate speech delay (speech apraxia). ABC checklist revealed increases in irritability, lethargy/withdrawal, stereotypic behaviors, & hyperactivity. No seizures. Feeding difficulties/failure to thrive during 1st year of life. Dysmorphic features: exophthalamos. Congenital anomalies: pyloric stenosis, inguinal hernia, urethral diverticulum, glaucoma. Growth percentiles: head circumference 35th, weight 92nd, length 80th. Normal muscle tone & strength, intact cranial nerves & deep tendon reflexes.
Borderline cognitive impairment. Bayley Scales of Infant Development (at 28 months of age) equivalent to 19 month child.
24650080
31284456
6634377
GRCh38
Deletion
Yes
Controls
No Control Data Available
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
shinawi_11_ADHD_discovery_cases-patient1
aCGH (Agilent 244K), FISH
De novo
Unknown
NA
RPL36AP40,MUC15,FIBIN,LIN7C,MIR8087,RNA5SP339,CBX3P1,HSP90AA2P,MIR610,RN7SKP158,MIR8068,OR2BH1P,HNRNPRP2,RN7SL240P,RPL7AP58,LINC01616,FSHB,RPL12P30,CYCSP25,SLC5A12,BBOX1,CCDC34,LINC00678,ARL14EP,MPPED2-AS1,LUZP2,ANO3,BBOX1-AS1,LGR4,BDNF-AS,BDNF,KIF18A,LINC02546,KCNA4,DCDC1,METTL15,MPPED2
Controls
No Control Data Available
No Animal Model Data Available