20p11.23-p11.21CNV Type: Deletion
Largest CNV size: 4220000 bp
Statistics Box:
Number of Reports: 1
Number of Reports: 1
Summary Information
A de novo deletion encompassing this region was identified in a 17-year-old female patient with intellectual disability, epilepsy, and autistic features.
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
Delineation of a region responsible for panhypopituitarism in 20p11.2.
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
dayem-quere_13_ID/EP_discovery_cases
17-year-old female patient presenting with intellectual disability and panhypopituitarism
1
Intellectual disability, epilepsy, and autistic features, as well as panhypopituaitarism, severe hypoglycemia, and scoliosis
17 yrs.
Female
4220000
1
0
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
dayem-quere_13_ID/EP_discovery_cases-case1
17 yrs.
F
Intellectual disability, epilepsy, and autistic features
Birth/neonatal history: mother treated with Urbanyl for epilepsy during pregnancy, pregnancy otherwise uneventful; delivery at term; birth weight 3.270 kg, birth length 50 cm; convulsive seizures related to severe hypoglycemia and total deficiency in growth hormone developed at age of 8 months (substitutive treatment instituted at this time). Developmental milestones: psychomotor delay by age of 9 months; patient sat with help at age of 18 months and began to walk with aid of walking frame at age of 35 months. Motor and musculoskeletal evaluation: hypotonia at 6 years of age; thoraco-lumbar scoliosis at age of 11 years; estimated bone age of 12 years at 17 years of age. Behavioral/psychiatric evaluation: appearance of behavioral troubles with autistic and psychotic traits at age of 3 years. Epilepsy/seizures: epilepsy by age of 9 months. Other features: appearance of thyroidal deficit requiring L-thyroxine therapy at 3 years of age; cerebellar syndrome at age of 6 years; discovery of panhypopituitarism with gonadotropin and corticotropin deficit, in addition to somatotrope and thyroidal deficit, at age of 11 years; no signs of puberty at age of 14 years (therapy with Estreva). Ocular evaluation: strabismus, bilateral hypermetropy. Dysmorphic features: coarse facial features, depressed nasal bridge, laterla protrusion of both ears, cupid-bow upper lip vermillion, large hands. Growth parameters: microcephaly (head circumference -3 SD) at age of 6 years. Family history: patient born to 24-year-old mother and father; mother with epilepsy (treated with Urbanyl at time of patient's gestation).
Intellectual disability; severe cognitive disability observed at age of 6 years
19829390
24050707
4221318
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
dayem-quere_13_ID/EP_discovery_cases-case1
aCGH (BlueGnome Cytochip ISCA 4x44K), FISH
De novo
Unknown
Possibly segregated
RPL17P1,RN7SL690P,INSM1,EIF4E2P1,LLPHP1,RN7SL607P,MRPS11P1,RPL24P2,RNA5SP477,RPS15AP1,RN7SKP140,GSTM3P1,SLC25A6P1,RPL41P1,FOXA2,KRT18P3,CYB5AP4,THBD,LINC00656,RNA5SP478,NXT1,LINC01431,RNA5SP479,CSTL1,CST11,CST9LP1,CST9L,CST9LP2,CST9,CST3,CST4,CST2P1,CST1,CST2,CST5,POM121L3P,NAA20,KIZ-AS1,ZNF877P,NKX2-4,NKX2-2,NKX2-2-AS1,LINC01727,PAX1,LINC01432,LINC00261,LNCNEF,SSTR4,CD93,GZF1,NAPB,CST12P,CST8,CST13P,CSTP2,CSTP1,CRNKL1,CFAP61,RALGAPA2,LINC00237,KIZ,XRN2,LINC01726,LINC01427,LINC01747,GGTLC1,RIN2
Controls
No Control Data Available
No Animal Model Data Available