3q26.33-q27.1CNV Type: Deletion
Largest CNV size: 2000000 bp
Statistics Box:
Number of Reports: 1
Number of Reports: 1
Summary Information
A possible de novo deletion within this region was identified in a male patient diangosed with Asperger syndrome and Klinefelter syndrome (47, XXY karyotype) (Dasouki et al., 2014).
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
Confirmation and further delineation of the 3q26.33-3q27.2 microdeletion syndrome.
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
dasouki_14_ASD/DD_discovery_cases
9.5-year-old Caucasian boy with twin sister presenting with dyslexia and hypotonia, and another older sister with failure to thrive, chronic diarrhea and zinc deficiency.
1
Case with diagnoses of Asperger syndrome (diagnostic tools N/A) and Klinefelter syndrome (47, XXY karyotype); case also presented with developmental delay, thrombocytopenia, recurrent infections, and hypogammaglobulinemia.
9 yrs. 4 mos.
Male
2000000
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
dasouki_14_ASD/DD_discovery_cases-case1
9 yrs. 4 mos.
M
ASD and DD
Case with diagnoses of Asperger syndrome (diagnostic tools N/A) and Klinefelter syndrome (47, XXY karyotype). Birth/neonatal history: product of 35 weeks twin gestation complicated by growth retardation; birth weight of 1474 g (<3rd %ile), length of 42.5 cm (<3rd %ile); neonatal course complicated by respiratory distress requiring surfactant therapy and endotracheal intubation; received platelet transfusion due to reported thrombocytopenia; neonatal hypotonia; remained in NICU for 20 days. Developmental milestones: early childhood complicated by postnatally persistent growth retardation, tremors, easy bruising, and diagnosis of Asperger syndrome (placed on gluten- and casein-free diet); speech and motor delays; walked at 2.5 years of age. Language and communication evaluation: speech delay. Motor and musculoskeletal evaluation: suspected osteopenia suspected on radiographic examination of leg bones due to refusal to work. Behavioral/psychiatric evaluation: diagnosis of Asperger syndrome. Epilepsy/seizures: none. Other features: recurrent pneumonias and upper respiratory tract infections requiring multiple hospitalizations; repeated episodes of hand-foot-mouth disease; laboratory studies revealed hypogammaglobulinemia (low serum IgG and IgA levels), mild leukopenia and neutropenia, and low platelet counts. Dysmorphic features: flat facial profile, medially sparse eyebrows, puffy eyelids, thin philtrum, dental crowding and delayed permanent teeth eruption requiring tooth extraction. Growth parameters: weight of 20.9 kg (<<3rd %ile), height of 119.4 cm (<<3rd %ile), and head circumference of 50.2 cm at age of 9 years 4 months; weight of 17.2 kg (1st %ile, Z score -2.29), height of 105.2 cm (0 %ile, Z score -2.99), BMI of 15.5 (51st %ile), and head circumference of 48 cm at age of 7 years. Family history: twin sister with dyslexia and hypotonia but normal growth; older sister with failure to thrive, chronic diarrhea and zinc deficiency who was suspected of having acrodermatitis enteropathica; another healthy older brother; mother with reported history of ashtma and alopecia.
Developmental delay
182752728
184751520
1998793
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
dasouki_14_ASD/DD_discovery_cases-case1
FISH
Possibly de novo
Simplex (for ASD)
Possibly segregated
MCCC1-AS1,RNA5SP151,SNORA63D,YEATS2-AS1,MAP6D1,RPSAP31,MIR4448,EEF1A1P8,HTR3D,HTR3E-AS1,HTR3E,HSP90AA5P,AP2M1,MIR1224,ALG3,CAMK2N2,SNORD66,POLR2H,THPO,LINC01839,MAGEF1,LAMP3,B3GNT5,LINC00888,KLHL6-AS1,KLHL24,PARL,CYP2AB1P,ABCC5,ABCC5-AS1,HTR3C,EIF2B5,ABCF3,VWA5B2,EEF1AKMT4,PSMD2,EIF4G1,FAM131A,CLCN2,CHRD,EPHB3,ATP11B,DCUN1D1,MCCC1,MCF2L2,YEATS2,DVL3,EEF1AKMT4-ECE2,ECE2,LINC02054,KLHL6,LINC01840
Controls
No Control Data Available
No Animal Model Data Available