14q32.32-q32.33CNV Type: Deletion
Largest CNV size: 2616301 bp
Statistics Box:
Number of Reports: 3
Number of Reports: 3
Summary Information
A deletion of this region of unknown origin was identified in a patient born to consanguineous parents that presented with 14q32.3 deletion syndrome with Dubowitz-like features (intrauterine growth restriction, low birth weight, mild intellectual disability with developmental delay, failure to thrive, microcephaly, ectopic kidney, mitral regurgitation and mitral valve prolapse) (Al-Qattan et al., 2014).
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
The clinical utility of molecular karyotyping for neurocognitive phenotypes in a consanguineous population.
Deletion
Genetic care in geographically isolated small island communities: 8 years of experience in the Dutch Caribbean
Deletion
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
al-qattan_14_DD/ID/ASD/ADHD/EP_discovery_cases
Retrospective chart review of patients (n=584) with a neurocognitive phenotype (mainly referred from pediatric neurology clinics) seen by a single clinical geneticist from September 2007 to July 2013
584
Inclusion criteria: presence of a neurocognitive phenotype (i.e., syndromic and non-syndromic cases of developmental delay, autism, intellectual disability, and epilepsy) with a normal karyotype
N/A
N/A
2616301
1
0
1
ceylan_18_DD/ID_discovery_cases
Patients examined at the department of genetics between May 2016 and April 2017
124
Global developmental delay/intellectual disability (DD/ID) and/or congenital anomalies
Range, 15 days-17 years
58.87% Male
4000000
1
0
1
verberne_22_ASD/DD/ID_discovery_cases
Patients in the Dutch Caribbean referred to a visiting Dutch clinical geneticist between November 2011 and November 2019 by local pediatricians for a clinical genetic evaluation at the outpatient pediatric clinics of the Curacao Medical Center, Dr. Horacio E. Oduber Hospital (Aruba), Fundashon Mariadal (Bonaire), and St. Maarten Medical Center.
331
Common reasons for referral included developmental delay (DD) and/or intellectual disability (ID) (39%), with or without other anomalies, and congenital anomalies (24%); a subset of individuals also presented with autism spectrum disorder (ASD) and/or seizures.
Range, 0-18.7 yrs. (median age 3.95 yrs.)
NA
2893366
1
0
1
Controls
No Control Data Available
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
al-qattan_14_DD/ID/ASD/ADHD/EP_discovery_cases
Saudi Arabia
Array SNP
Affymetrix 6.0, Affymetrix Cyto-V2, Affymetrix CytoScan HD
HMM
Affymetrix GeneChip Command Console v.1.2, Affymetrix ChAS version Cyto 2.0.0.195
None
ceylan_18_DD/ID_discovery_cases
Turkish
Array SNP
Affymetrix CytoScan Optima
ChAS v.3.1
None
verberne_22_ASD/DD/ID_discovery_cases
Dutch Caribbean
CMA
NA
NA
NA
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
al-qattan_14_DD/ID/ASD/ADHD/EP_discovery_cases-case13DG0501
N/A
N/A
Intellectual disability
intrauterine growth restriction, low birth weight, mild intellectual disability with developmental delay, failure to thrive, microcephaly, ectopic kidney, mitral regurgitation and mitral valve prolapse (14q32.3 deletion syndrome with Dubowitz-like features). Consanguineous parents.
Intellectual disability
103179169
105795459
2616291
GRCh38
Deletion
No
ceylan_18_DD/ID_discovery_cases-case10
9 yrs.
N/A
Developmental delay and intellectual disability
Developmental milestones: developmental delay. Dysmorphic features: long face, pointed chin, anterverted ears, epicanthal fold. Other findings: none.
Intellectual disability
102789123
106877229
4088107
GRCh38
Deletion
No
verberne_22_ASD/DD/ID_discovery_cases-case169
NA
M
Developmental delay
Developmental delay, hypotonia, facial dysmorphism
102839877
105733242
2893366
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
al-qattan_14_DD/ID/ASD/ADHD/EP_discovery_cases-case13DG0501
Unknown
Unknown
Unknown
GCSHP2,LINC00605,RPL21P13,RAP2CP1,SNORA28,HMGB3P26,RPSAP5,RPL10AP1,CKB,RNU7-160P,BAG5,RNU4-68P,LINC00637,RD3L,RN7SL634P,MIR203A,MIR203B,RNU6-684P,CEND1P1,C14orf180,LINC02280,MIR4710,ZBTB42,LINC00638,RPS26P49,RPS2P4,PLD4,CDCA4,LINC02298,MIR6765,NUDT14,RPS20P33,CRIP2,CRIP1,ATP5MC1P1,ELK2BP,IGHA2,IGHE,IGHG4,MIR8071-1,MIR8071-2,IGHGP,ELK2AP,IGHA1,IGHEP1,IGHG3,EIF5,TRMT61A,APOPT1,XRCC3,ZFYVE21,ATP5MPL,ASPG,KIF26A,INF2,SIVA1,AKT1,CEP170B,AHNAK2,GPR132,JAG2,TEX22,MTA1,TEDC1,TMEM121,IGHG1,MARK3,KLC1,TDRD9,TMEM179,ADSSL1,CLBA1,BRF1,BTBD6,PACS2,IGHG2,PPP1R13B
ceylan_18_DD/ID_discovery_cases-case10
De novo
RNU6-1316P,RPL13P6,NDUFB4P11,RPL21P12,GCSHP2,LINC00605,RPL21P13,RAP2CP1,SNORA28,HMGB3P26,RPSAP5,RPL10AP1,CKB,RNU7-160P,BAG5,RNU4-68P,LINC00637,RD3L,RN7SL634P,MIR203A,MIR203B,RNU6-684P,CEND1P1,C14orf180,LINC02280,MIR4710,ZBTB42,LINC00638,RPS26P49,RPS2P4,PLD4,CDCA4,LINC02298,MIR6765,NUDT14,RPS20P33,CRIP2,CRIP1,ATP5MC1P1,ELK2BP,IGHA2,IGHE,IGHG4,MIR8071-1,MIR8071-2,IGHGP,ELK2AP,IGHA1,IGHEP1,IGHG3,IGHM,MIR4539,MIR4507,MIR4538,MIR4537,IGHJ6,IGHJ3P,IGHJ5,IGHJ4,IGHJ3,IGHJ2P,IGHJ2,IGHJ1,IGHD7-27,IGHJ1P,IGHD1-26,IGHD6-25,IGHD5-24,IGHD4-23,IGHD3-22,IGHD2-21,IGHD1-20,IGHD6-19,IGHD5-18,IGHD4-17,IGHD3-16,IGHD2-15,IGHD1-14,IGHD6-13,IGHD5-12,IGHD4-11,IGHD3-10,IGHD3-9,IGHD2-8,IGHD1-7,IGHD6-6,IGHD5-5,IGHD4-4,IGHD3-3,IGHD2-2,IGHD1-1,IGHV6-1,IGHVII-1-1,IGHV1-2,IGHVIII-2-1,IGHV1-3,IGHV4-4,IGHV7-4-1,IGHV2-5,IGHVIII-5-1,IGHVIII-5-2,IGHV3-6,IGHV3-7,IGHV3-64D,IGHV5-10-1,IGHV3-11,IGHVIII-11-1,IGHV1-12,IGHV3-13,IGHVIII-13-1,IGHV1-14,IGHV3-15,IGHVII-15-1,IGHV3-16,IGHVIII-16-1,IGHV1-17,SLC20A1P2,IGHV1-18,IGHV3-19,IGHV3-20,IGHV3-21,IGHV3-22,IGHVII-22-1,IGHVIII-22-2,IGHV3-23,IGHV1-24,HOMER2P2,LINC00226,IGHV3-25,IGHVIII-25-1,IGHV2-26,IGHVIII-26-1,IGHVII-26-2,IGHV7-27,IGHV4-28,IGHVII-28-1,IGHV3-32,IGHV3-30,IGHVII-30-1,IGHV3-30-2,IGHV4-31,IGHVII-30-21,IGHV3-29,IGHV3-33,IGHVII-33-1,IGHV3-33-2,IGHV4-34,IGHV7-34-1,IGHV3-35,IGHV3-36,IGHV3-37,IGHV3-38,IGHVIII-38-1,IGHV4-39,IGHV7-40,IGHVII-40-1,IGHV3-41,HOMER2P1,IGHV3-42,IGHV3-43,IGHVII-43-1,IGHVIII-44,IGHVIV-44-1,IGHVII-44-2,IGHV1-45,IGHV1-46,IGHVII-46-1,IGHV3-47,IGHVIII-47-1,IGHV3-48,IGHV3-49,IGHVII-49-1,IGHV3-50,IGHV5-51,IGHVIII-51-1,IGHVII-51-2,IGHV3-52,IGHV3-53,IGHVII-53-1,IGHV3-54,IGHV4-55,IGHV7-56,IGHV3-57,IGHV1-58,IGHV4-59,IGHV3-60,RNA5SP389,IGHVII-60-1,IGHV4-61,IGHVII-62-1,IGHV3-63,IGHV3-64,IGHV3-65,IGHVII-65-1,IGHV3-66,IGHV1-67,SLC20A1P1,IGHVII-67-1,IGHVIII-67-2,IGHVIII-67-3,IGHVIII-67-4,IGHV1-68,IGHV1-69,IGHV2-70D,IGHV3-69-1,IGHV1-69-2,IGHV1-69D,IGHV2-70,IGHV3-71,IGHV3-73,IGHV3-74,IGHVII-74-1,IGHV3-75,IGHV3-76,IGHVIII-76-1,MIR5195,IGHV5-78,IGHVII-78-1,IGHV3-79,IGHV7-81,AMN,LBHD2,EXOC3L4,LINC00677,TNFAIP2,EIF5,TRMT61A,APOPT1,XRCC3,ZFYVE21,ATP5MPL,ASPG,KIF26A,INF2,SIVA1,AKT1,CEP170B,AHNAK2,GPR132,JAG2,TEX22,MTA1,TEDC1,TMEM121,IGHG1,IGHD,FAM30A,ADAM6,LINC00221,IGHV3-62,IGHV3-72,IGHV4-80,TRAF3,CDC42BPB,MARK3,KLC1,TDRD9,TMEM179,ADSSL1,CLBA1,BRF1,BTBD6,PACS2,IGHG2,PPP1R13B
verberne_22_ASD/DD/ID_discovery_cases-case169
De novo
CKB,AKT1,EIF5,CRIP1,CRIP2,ELK2AP,GPR132,CDCA4,ZFYVE21,INF2,COA8,AMN,TMEM121,AHNAK2,EXOC3L4,BTBD6,RPS2P4,CLBA1,RPL21P12,TRMT61A,ADSS1,TDRD9,PLD4,CEND1P1,LINC02691,PPP1R13B-DT,LINC00638,IGHA2,IGHE,IGHG4,BRF1,IGHEP1,IGHG2,IGHGP,IGHA1,CEP170B,NUDT14,TEDC1,ATP5MC1P1,RPL10AP1,RPSAP5,RPL21P13,TMEM179,ASPG,C14orf180,MIR203A,RD3L,TEX22,SNORA28,RPL13P6,ZBTB42,HMGB3P26,KLC1,JAG2,MARK3,LINC00605,RPS26P49,RPS20P33,GCSHP2,MIR4710,MIR203B,LINC02280,LINC02298,MIR8071-1,MIR6765,MIR8071-2,LINC00677,KIF26A-DT,RNU7-160P,TRAF3,TNFAIP2,RNU4-68P,RAP2CP1,RNU6-1316P,RN7SL634P,RNU6-684P,NDUFB4P11,LBHD2,XRCC3,COPDA1,MTA1,ATP5MJ,CDC42BPB,BAG5,ELK2BP,SIVA1,PPP1R13B,KIF26A,PACS2
Controls
No Control Data Available
No Animal Model Data Available