4q13.1-q21.1CNV Type: Deletion
Largest CNV size: 18000000 bp
Statistics Box:
Number of Reports: 1
Number of Reports: 1
Summary Information
Deletion identified in a 7-year-old male patient with developmental delay (Utine et al., 2014); because the start and end points of this CNV were not provided in the original report, its precise gene content is unknown.
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
Etiological yield of SNP microarrays in idiopathic intellectual disability.
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
utine_14_DD/ID/ASD_discovery_cases
Patients referred for genetic evaluation for developmental delay or intellectual disability, with or without accompanying dysmorphic features, single or multiple malformations, growth disorder, behavior disorder and/or autism, and family history of ID/autism (Hacettepe University, Ankara, Turkey)
100
Developmental delay (74 cases with prominent motor delay, 86 with delayed mental milestones; 67 with both) and/or intellectual disability (18 cases with mild ID, 48 with moderate ID, 34 with severe ID); 36 cases with problems in social interactions (considered as "autistic features); 30 cases with history of at least one seizures; 89 cases with brain imaging (normal in 61 cases).
Range, 2-22 yrs. (mean age, 10.8 yrs.)
75% Male
18000000
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
utine_14_DD/ID/ASD_discovery_cases-case11
7 yrs.
M
Developmental delay
Patient referred at age of 3 years 3 months for speech delay. Birth/neonatal history: born at term; operation for right-sided inguinal hernia at 2 months of age, experienced recurrent pneumonia and urolithiasis since 9 months of age. Developmental milestones: head control at 10 months, sat wihout support at 2 years, walked independently at 2.5 years, said first word at 3 years of age. Langauge and communication evaluation: mild articulation problems. Behavioral/psychiatric evaluation: hyperactivity, disinhibition, and social interaction problems; no autism or autistic features. Epilepsy/seizures: no. Brain imaging: normal. Auditory examination: normal. Dysmorphic features: frontal bossing, low-set horizontal eyebrows, deep-set eyes, prominent ears, joint laxity, loose skin. Growth paramters: short stature, normal head circumference.
Severe DD/ID (mean area of delay/disability: global)
N/A
N/A
18000000
Unknown
Deletion
Yes
Controls
No Control Data Available
No Animal Model Data Available