3q13.2-q13.32CNV Type: Deletion
Largest CNV size: 7200000 bp
Statistics Box:
Number of Reports: 1
Number of Reports: 1
Summary Information
A deletion within this region was identified in a patient with developmental delay and attention deficits (Molin et al., 2012).
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
No Major Reports
Minor Reports
Title
Author, Year
Report Class
CNV Type
A novel microdeletion syndrome at 3q13.31 characterised by developmental delay, postnatal overgrowth, hypoplastic male genitals, and characteristic...
Deletion
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
molin_12_DD/ASD_discovery_cases
14 novel patients carrying microscopic or submicroscopic deletions in the 3q12.3-q21.3 region, and 1 previously reported 3q-deletion patient (Ogilvie et al. 1998).
15
Developmental delay present in 13/15 cases; 5/15 cases with attention deficits; 3/15 cases with autism.
Range, 1 yr. 6 mos.-19 yrs. 6 mos.
66.67% Male
7200000
1
0
1
Controls
No Control Data Available
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
molin_12_DD/ASD_discovery_cases
NA
aCGH, array SNP
Affymetrix GeneChip 250K Nsp, Affymetrix 6.0, 1 Mb clone array, Agilent 400K, Agilent 44K, BlueGnome CytoChip V2, SpectralChip CC4-V0.3
None
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
molin_12_DD/ASD_discovery_cases-case8
18 yrs.
M
Developmental delay and attention deficits
DECIPHER ID: NA. Birth parameters: weight (g), 3430 (50-85th %ile); length (cm), NA; OFC (cm), NA. Delayed speech: yes. Behavioral problems: attention deficits, some repetitive behaviors. Hypotonia: yes. Brain/CNS abnormalities: none reported. Skull abnormalities: macrocephaly. Skeletal abnormalities: tapering fingers. Other malformations: none reported. Eye abnormalities: none reported. Dysmorphic features: prominent/broad forehead, high arched palate, large fleshy ears, pointed chin. Growth parameters: weight (kg), NA; height (cm), 195 (>99th %ile); OFC (cm), 59.7 (97th %ile).
Developmental delay; IQ<50
111774892
118981936
7207045
GRCh38
Deletion
No
Controls
No Control Data Available
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
molin_12_DD/ASD_discovery_cases-case8
Unknown
Unknown
Unknown
RFKP2,MIR567,TBILA,OR7E100P,MIR8076,SIDT1-AS1,MIR4446,RN7SL767P,VPS26AP1,ZNF80,MIR568,ZBTB20-AS2,MIR4796,ZBTB20-AS3,YBX1P3,ZBTB20-AS4,EIF4E2P2,RN7SL815P,LSAMP-AS1,RN7SL582P,BZW1P2,MIR4447,LINC00901,RNU5E-8P,PTMAP8,RNU6-1200P,ABHD10,TAGLN3,C3orf52,GCSAM,CD200,BTLA,ATG3,SLC35A5,CCDC80,LINC02042,CD200R1L,CD200R1,GTPBP8,NEPRO,LINC02044,CFAP44-AS1,SIDT1,USF3,NAA50,ZDHHC23,ZBTB20-AS1,ZBTB20-AS5,GAP43,LINC00903,TUSC7,LINC02024,IGSF11-AS1,PLCXD2,PHLDB2,TMPRSS7,CFAP44,SPICE1,ATP6V1A,GRAMD1C,CCDC191,QTRT2,DRD3,ZBTB20,IGSF11,SLC9C1,BOC,TIGIT,LSAMP
Controls
No Control Data Available
No Animal Model Data Available