HELP     Sign In

11p11.2-q11CNV Type: Duplication


Largest CNV size: 10400000 bp

Statistics Box:
Number of Reports: 1



Summary Information

A de novo duplication of this region, which was actually a small supernumerary marker chromosome [sMC(11)] present in 43.3% of cultured peripheral blood lymphocytes, was observed in a 4 year 8 month-old boy presenting with autism and developmental delay (Hochstenbach et al., 2016).

Additional Locus Information

Genome browsers

USCS Symbol             NCBI Symbol

Decipher

            Decipher Symbol

References

Major Reports

Title
Author, Year
Report Class
CNV Type
Multiple Small Supernumerary Marker Chromosomes Resulting from Maternal Meiosis I or II Errors.
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
 hochstenbach_16_ASD/DD_discovery_cases
 Case with multiple mosaic de novo small supernumerary marker chromosomes (sSMCs) identified by karyotyping
 1
 Case diagnosed with autism (based on psychiatric assessment according to DSM-IV); case also presented with developmental delay, speech delay, hyperactivity, hypotonia, and dysmorphic features
 4 yrs. 8 mos.
 Male
 10400000
 0
 1
 1

Controls

No Control Data Available

Cases

Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
 hochstenbach_16_ASD/DD_discovery_cases
  European
 Karyotyping, FISH
 
 
 
 aCGH (Agilent 180K)

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
  hochstenbach_16_ASD/DD_discovery_cases-case1
 4 yrs. 8 mos.
 M
 Autism and developmental delay
 Case diagnosed with autism (based on psychiatric assessment according to DSM-IV). Birth/neonatal history: mother experienced hypoglycemia during pregnancy; case born after 38 weeks of gestation by spontaneous and uncomplicated delivery; birth weight of 3450 g, length of 54 cm, and head circumference of 36 cm (all within normal range); Apgar score of 10; asymmetric face with retrognathia on the right side, left-sided cryptorchidism and short frenulum of the foreskin noted at birth; tube-feeding required due to problems with sucking and swallowing; karyotyping performed at age of 2 months due to ventricular septal defect; high serum calcium concentration; constipation; face became more symmetric and feeding problems diminished over time (remaining dysmorphic features normalized spontaneously after second year of life). Developmental milestones: delayed; walked at 20 months, delayed speech development (first words after 1 year of age, simple sentences at about 3 years of age, more complicated sentences at about 4 years of age). Motor and musculoskeletal evaluation: joint laxity, hypotonia, slight syndactyly of 2nd and 3rd toes, hypoplastic nails of the 5th toes, proximally localized thumbs. Behavioral/psychiatric evaluation: hyperactivity. Brain imaging: unremarkable brain ultrasound at 2 months. Visual evaluation: hypermetropia (+5D), strabimsus divergens. Auditory evaluation: normal hearing. Dysmorphic features: long face, straight and high forehead, low-set and wave-shaped eyebrows, straight and long eyelashes, synophrys, flat nasal bridge, straight and short nose with hypoplastic alae, open mouth, coarse hair, tops of auricles were flat and thickened, 2 cafe-au-lait spots on trunk. Family history: case born to non-consanguineous couple with normal karyotypes (mother was 32 years old and father 31 years old at time of birth). Note: duplication is actually a small supernumerary marker chromosome [sMC(11)] present in 43.3% of cultured peripheral blood lymphocytes from the case.
 
 44960651
 55385607
  10424957
 GRCh38
 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
 hochstenbach_16_ASD/DD_discovery_cases-case1
 aCGH (Agilent 180K)
 
 De novo
 
 
 MIR7154,DKFZp779M0652,C11orf94,PEX16,MIR4688,CHRM4,MIR3160-1,MIR3160-2,ZNF408,MIR5582,SNORD67,MIR6745,ACP2,MIR4487,PSMC3,RN7SL652P,PTPMT1,KBTBD4,RNU5E-10P,FAM180B,C1QTNF4,RNA5SP340,YPEL5P2,PTPRJ-AS1,MIR3161,OR4B1,OR4B2P,OR4X2,OR4X1,OR4S1,OR4C3,OR4C2P,OR4C10P,OR4C9P,OR4R1P,OR4A47,OR4A48P,OR4A43P,OR4A45P,OR4A41P,OR4A42P,TRIM51CP,TRIM51GP,TRIM64C,UBTFL7,UBTFL9,CBX3P8,TRIM51FP,TRIM51DP,OR4A1P,OR4A49P,OR4A18P,OR4A19P,OR4R3P,OR4C13,OR4C12,OR4C48P,OR4C45,OR4C49P,OR4C46,OR4C7P,OR4R2P,OR4A4P,OR4A3P,OR4A2P,OR4A8,OR4A7P,OR4A5,OR4A6P,OR4A11P,OR4A12P,OR4A16,OR4A15,SYT13,CHST1,SLC35C1,MAPK8IP1,LARGE2,CREB3L1,DGKZ,MDK,HARBI1,ARHGAP1,F2,LRP4-AS1,LRP4,ARFGAP2,DDB2,NR1H3,MYBPC3,SPI1,SLC39A13,CELF1,MTCH2,FNBP4,OR4C4P,OR4A40P,TRIM53CP,TRIM49B,TRIM77BP,GTF2IP11,OR4C50P,TRIM48,TRIM51HP,PRDM11,CRY2,PHF21A,LINC02489,AMBRA1,ATG13,CKAP5,C11orf49,MADD,RAPSN,NDUFS3,AGBL2,NUP160,PTPRJ,OR4C5,OR4A46P,OR4A44P,FOLH1,TYRL,PACSIN3
 

Controls

No Control Data Available
No Animal Model Data Available
HELP
Copyright © 2017 MindSpec, Inc.