6p24.3-p22.3CNV Type: Deletion
Largest CNV size: 14600000 bp
Statistics Box:
Number of Reports: 1
Number of Reports: 1
Summary Information
This deletion was identified in a 1-month-old patient with congenital heart defects in a report screening for 6p deletions containing ATXN1 in cases with developmental delay and ASD.
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
Deletions in chromosome 6p22.3-p24.3, including ATXN1, are associated with developmental delay and autism spectrum disorders.
Deletion
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
celestino-soper_12_DD/CHD_discovery_cases
Subjects from databases of Baylor College of Medicine-Medical Genetics Laboratories (MGL) and Signature Genomic Laboratories (SGL) diagnostic laboratories
5
Four patients with developmental delay (DD), one with congenital heart defects (CHD)
Range, 1 mo.-17 yrs.
60.0% Male
14600000
1
0
1
Controls
No Control Data Available
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
celestino-soper_12_DD/CHD_discovery_cases
NA
aCGH
Agilent OLIGO custom clinical microarrays versions 7.4 OLIGO, 6.3 OLIGO, 6.4 OLIGO, 8.0 OLIGO, Agilent 105 K-feature SignatureChip Oligo Solution whole-genome custom microarray
aCGH (Agilent catalog SurePrint G3 Human CGH Microarray 11M)
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
celestino-soper_12_DD/CHD_discovery_cases-patient3
1 mo.
F
Congenital heart defect (CHD)
Newborn female patient passed away soon after birth due to multiple congenital defects. Cardiac evaluation: enlarged heart with multiple congenital heart defects (dilated right atrium, interrupted aortic arch, dilated pulmonary trunk with superiorly placed left pulmonary artery take-off, patent foramen ovale, two left and one right pulmonary veins draining to left atrium, perimembranous ventricular septal defect with portion of tricuspid valve extending through VSD, patent ductus arteriosus, and narrowed aortic and mitral valves). Dysmorphic features: low set ears, bilateral partial aniridia, incomplete palpebral fissures bilaterally, micrognathia, shortened philtrum, redundant nuchal folds, two supernumerary nipples, hypoplastic toe nails, incomplete lobation of the right upper and middle lung lobes, bicornuate uterus,diastasis recti, bilateral simian creases of the hands, and anteriorly placed anus. Family history: NA, parents were not available for further studies.
NA
9621268
24218031
14596764
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
celestino-soper_12_DD/CHD_discovery_cases-patient3
aCGH (Agilent catalog SurePrint G3 Human CGH Microarray 11M)
Unknown
Unknown
Unknown
RNU6ATAC21P,TFAP2A-AS2,TFAP2A-AS1,LINC00518,MIR5689,MRPL48P1,LINC02522,TMEM14C,RNA5SP203,RNU1-64P,THAP12P5,EDN1,SUMO2P12,RN7SKP293,RPL15P3,LINC02530,RNU1-11P,GFOD1-AS1,RPS4XP7,RN7SKP204,MRPL35P1,RNU7-133P,LINC01108,RNU6-793P,RN7SL332P,JARID2-AS1,RNU6-522P,RNU6-645P,ARPC3P5,LINC02543,MIR4639,MRPL42P2,RNU6-1114P,RPL7P26,SUMO2P13,FAM8A1,RNU6-190P,RNA5SP204,RNU6-263P,DDX18P3,MIR548A1,RPL5P20,RNA5SP205,KRT18P38,UQCRFS1P3,RNU6-801P,ID4,RN7SL128P,E2F3-IT1,RNU6-141P,RNU6-150P,BOLA2P3,NBAT1,PRL,HDGFL1,RNU6-1060P,SPTLC1P2,HNRNPA1P58,TFAP2A,MIR5689HG,C6orf52,PAK1IP1,MAK,SYCP2L,ELOVL2-AS1,SMIM13,ERVFRD-1,TMEM170B,AMD1P4,TBC1D7,SIRT5,MCUR1,RNF182,CD83,MYLIP,STMND1,RBM24,NHLRC1,TPMT,DEK,RNF144B,SOX4,RN7SKP240,NRSN1,OFCC1,GCNT2,TMEM14B,GCM2,ELOVL2,NEDD9,ADTRP,HIVEP1,PHACTR1,GFOD1,JARID2,DTNBP1,GMPR,ATXN1,CAP2,NUP153,KDM1B,MIR548A1HG,MBOAT1,E2F3,LINC00581,DCDC2,NOL7,RANBP9,KIF13A,CDKAL1,CASC15
Controls
No Control Data Available
No Animal Model Data Available