4p12-q12CNV Type: Duplication
Largest CNV size: 7700000 bp
Statistics Box:
Number of Reports: 1
Number of Reports: 1
Summary Information
A de novo duplication of this region, which was actually a small supernumerary marker chromosome [sMC(4)] 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
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
7700000
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
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(4)] present in 43.3% of cultured peripheral blood lymphocytes from the case.
45394463
53064535
7670073
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
RNU6-931P,RN7SKP199,RNU6-412P,RAC1P2,COMMD8,MIR8053,RNU6-838P,SLC10A4,ZAR1,RNU5E-3P,RNU6-158P,TPI1P4,MTCO3P39,MTND3P22,ANKRD20A17P,MTCO3P42,SNX18P25,DUTP7,LINC02480,RNU6-1252P,USP46-AS1,DANCR,MIR4449,SNORA26,RASL11B,GABRG1,NFXL1,OCIAD1,OCIAD1-AS1,SNX18P23,SNX18P24,LRRC66,SPATA18,USP46,ERVMER34-1,LINC01618,GABRA2,COX7B2,GABRA4,ATP10D,CORIN,NIPAL1,CNGA1,TXK,SLAIN2,FRYL,OCIAD2,CWH43,DCUN1D4,SGCB,SCFD2,GABRB1,TEC
Controls
No Control Data Available
No Animal Model Data Available