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11q13.2-q13.4CNV Type: Deletion


Largest CNV size: 3400000 bp

Statistics Box:
Number of Reports: 2



Summary Information

Summary statement in development

Additional Locus Information

Genome browsers

USCS Symbol             NCBI Symbol

Decipher

            Decipher Symbol

References

Major Reports

Title
Author, Year
Report Class
CNV Type
Olfactory Receptor-Related Duplicons Mediate a Microdeletion at 11q13.2q13.4 Associated with a Syndromic Phenotype.
Deletion
De novo 11q deletion including SHANK2 in a patient with global developmental delay.
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
 marcou_17_DD/ID_discovery_cases
 Third child born to parents with unremarkable family history presenting with a de novo 11q13.2-q13.4 deletion that included the SHANK2 gene
 1
 Case presented with global developmental delay, intellectual disability, microcephaly, and dysmorphic features
 12 yrs.
 Female
 3500000
 1
 0
 1
 wischmeijer_10_MR_discovery_cases
 Proband born to healthy, unrelated parents with no family history of congenital abnormalities or mental retardation
 1
 Mental retardation (MR), severe language delay, dysmorphic features
 8.5 yrs.
 Female
 3400000
 1
 0
 1

Controls

No Control Data Available

Cases

Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
 marcou_17_DD/ID_discovery_cases
  N/A
 Array SNP
  Affymetrix Cytoscan HD
 
 
 FISH
 wischmeijer_10_MR_discovery_cases
  Italian
 aCGH
  Agilent 44B
 
 
 Microsatellite analysis, FISH

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
  marcou_17_DD/ID_discovery_cases-case1
 12 yrs.
 F
 Global developmental delay/intellectual disability
 Birth/neonatal history: born to a 36-year-old, gravida three, para three mother via natural conception; pregnancy not complicated by maternal illness or exposure to known teratogens, although the mother did take birth control pills during the first trimester and an antidepressant medication throughout gestation; birth at 36-1/2 weeks gestation via spontaneous vaginal delivery; birth weight of 2814 g (5th %ile), length of 45.08 cm (5th %ile), and head circumference of 32 cm (25th %ile); postnatal complications included need for oxygen and resuscitation for first 5 minutes of life; no additional postnatal complications observed prior to release from hospital; normal newborn screening; weak cry and weak suck as an infant, resulting in feeding difficulties and failure to thrive (weight <5th %ile); microcephaly (head circumference fell from 25th %ile to <5th %ile), hypotonia, and global developmental delay noted at this time. Developmental milestones: global developmental delay; rolling from front to back at 7 months, unassisted sitting between 9-11 months, crawling at 1 year, began pulling to stand at 14 months, independent walking at 22 months, climbing stairs between 4-5 years; did not use words until 3-4 years, did not speak in complete sentences until 8 years; no developmental regression. Lanaguge and communication evaluation: severe language delay, receives speech therapy twice a week. Motor and musculoskeletal evaluation: hypotonia; hypermobility in the small joints of the hand, mild pectus excavatum, evidence of scoliosis, arachnodactyly, long and thin feet, long and slender figners, clinodactyly of both fifth fingers, mild pes planus, piezogenic apules. EEG: normal. Brain imaging: normal brain MRI. Dysmorphic features: microcephaly, mild dolichocephaly, mild malar hypoplasia, mild retrognathia, fine hair, posterior hair whorl, prominent forehead, bilateral epicanthal folds, long palpebral fissures, deep-set eyes, low-set ears, petite ears, long ears with over-folding of the superior helix and with no tags or pits, broad nasal tip, depressed nasal bridge, small mouth, slight downturned corners of the mouth, widely spaced teeth. Growth parameters: height of 148.3 cm (19th %ile), weight of 36.1 kg (15th %ile), and head circumference of 50 cm (<3rd %ile) at 12 years. Family history: third child of parents; family history on both the maternal and paternal side is unremarkable with no documentation of any congenital anomalies or developmental delay; 48-year-old mother, 51-year-old father, and 23-year-old sister are healthy, 28-year-old brother was treated for testicular cancer at 21 years of age and a recurrence at 26 years of age.
 Moderate-severe intellectual disability; case currently in 6th grade but performs work at 1st grade level.
 68031693
 71593495
  3561803
 GRCh38
 Deletion
 Yes
  wischmeijer_10_MR_discovery_cases-proband
 8.5 yrs.
 F
 Mental retardation (MR)
 Severe language delay, multiple dysmorphic features (prominent forehead; eyes: ptosis, strabismus, astigmatism; ears: low set, posteriorly rotated, small simple ears with overfolded helices, preauricular tag; nose: round overhanging tip & hypoplastic alae nasi, broad nasal bridge; mouth: small, thin upper lip; teeth: small & central incisors widely spaced; long slender fingers; feet: metatarsus adductus, partial cutaneous syndactyly of toes II-III)
 Moderate-to-severe MR
 68001284
 71575789
  3574506
 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
 marcou_17_DD/ID_discovery_cases-case1
 FISH
 
 De novo
 Simplex
 Segregated
 NDUFS8,MIR7113,MIR4691,MIR6753,C11orf24,NDUFA3P2,GAL,MRGPRD,MRGPRF-AS1,MIR3164,IFITM9P,FGF19,FGF4,RNU6-1175P,ANO1-AS1,H2AFZP4,MIR548K,SHANK2-AS2,SHANK2-AS3,MIR3664,MIR6754,KRTAP5-7,KRTAP5-8,KRTAP5-10,KRTAP5-14P,OR7E87P,TCIRG1,CHKA,TESMIN,MRPL21,IGHMBP2,MRGPRF,LINC01488,CCND1,LTO1,FGF3,LINC02584,FADD,PPFIA1,CTTN,SHANK2-AS1,FLJ42102,NADSYN1,KRTAP5-9,KRTAP5-11,LRP5,PPP6R3,CPT1A,TPCN2,MYEOV,ANO1,SHANK2,DHCR7,KMT5B
 
 wischmeijer_10_MR_discovery_cases-proband
 Microsatellite analysis, FISH
 
 De novo
 NA
 NA
 NDUFS8,MIR7113,MIR4691,MIR6753,C11orf24,NDUFA3P2,GAL,MRGPRD,MRGPRF-AS1,MIR3164,IFITM9P,FGF19,FGF4,RNU6-1175P,ANO1-AS1,H2AFZP4,MIR548K,SHANK2-AS2,SHANK2-AS3,MIR3664,MIR6754,KRTAP5-7,KRTAP5-8,KRTAP5-10,UNC93B1,TCIRG1,CHKA,TESMIN,MRPL21,IGHMBP2,MRGPRF,LINC01488,CCND1,LTO1,FGF3,LINC02584,FADD,PPFIA1,CTTN,SHANK2-AS1,FLJ42102,NADSYN1,KRTAP5-9,ALDH3B1,LRP5,PPP6R3,CPT1A,TPCN2,MYEOV,ANO1,SHANK2,DHCR7,KMT5B
 

Controls

No Control Data Available
No Animal Model Data Available
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