9p23-p21.2CNV Type: Duplication
Largest CNV size: 12500000 bp
Statistics Box:
Number of Reports: 1
Number of Reports: 1
Summary Information
A de novo duplication was identified in a female with autistic disorder and mental retardation. This case was also found to have a de novo 9p24.3-p23 deletion.
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
Novel chromosomal translocation t(11;9)(p15;p23) involving deletion and duplication of 9p in a girl associated with autism and mental retardation.
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
yang_12_ASD_discovery_cases
Female proband (born to unrelated Han Chinese parents) first examined at 4 years due to mental retardation and language developmental delay
1
Diagnosis of autism (case met criteria for autistic disorder on PL-ADOS and ADI-R, as well as DSM-IV criteria for autism) and mental retardation (diagnosed with Gesell Developmental Schedules)
5 yrs.
Female
12500000
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
yang_12_ASD_discovery_cases-case1
5 yrs.
F
Autism + mental retardation
Case met diagnostic criteria for autistic disorder on both PL-ADOS and ADI-R; met DSM-IV crtieria for autism. Birth/neonatal history: unremarkable pregnancy; born at full term with birth weight in 50th-75th %ile; no neonatal problems. Developmental milestones: developmental delay noted by parents ~1 year after birth; all developmental milestones were delayed (sat alone at 11 months, walked at 1 year 7 months, first clear words at 4 years old). Language and communication evaluation: on neurological exam, case did not talk at all, communicated with gestures instead of words, & could only repeat some non-specific sounds without communicative intent; able to understand simple statements and question and respond appropriately to social and environmental stimulation; did not respond to eye contact. Behavioral/psychiatric evaluation: marked impairment in the use of multiple nonverbal behaviors, such as eye-to-eye gaze, facial expression and body postures to regulate social interaction; exhibited two finger-to-mouth behaviors (thumb sucking and fingernail biting); did not play interactive games or make friends; fascinated with playing cards in a repetitive manner. Brain imaging: normal brain MRI. Vision: ophthalmic evaluation and ocular motility exam were normal. Cardiac evaluation: regular rhythm, no murmurs, rubs, or gallops. Other medical concerns and comorbidities: unremarkable physical exam; normal hematologic indices, liver function, biochemical findings, and metabolic exam. Dysmorphic features: prominent eyes, thin upper lip, prominent nose, long philtrum, 5th finger clinodactyly. Growth parameters: normal height (105 cm; 50th-75th %ile), weight (16 kg; 25th-50th %ile), and head circumference (49 cm; 25th-50th %ile). Family history: unrelated parents; family history of heart defects in paternal cousins. Other genetic characteristics: chromosomal translocation t(11;9)(p15;p23).
Severe mental retardation. Gesell Developmental Scales evaluation at 4 years: motor behavior developmental quotient (DQ) of 40; language behaivor DQ of 34; adaptive ability DQ of 35; personal-social DQ of 31.
13520711
26077907
12500000
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
yang_12_ASD_discovery_cases-case1
Microsatellite analysis
De novo
Unknown, possibly simplex
Possibly segregated
NFIB,ZDHHC21,CER1,FREM1,TTC39B,SNAPC3,PSIP1,CCDC171,BNC2,CNTLN,SH3GL2,ADAMTSL1,FAM154A,RRAGA,HAUS6,PLIN2,DENND4C,RPS6,ACER2,SLC24A2,MLLT3,FOCAD,PTPLAD2,IFNB1,IFNW1,IFNA21,IFNA4,IFNA7,IFNA10,IFNA16,IFNA17,IFNA14,IFNA5,KLHL9,IFNA6,IFNA13,IFNA2,IFNA8,IFNA1,IFNE,MTAP,CDKN2A,CDKN2B,DMRTA1,ELAVL2,TUSC1,LOC100506422
Controls
No Control Data Available
No Animal Model Data Available