12q13.13-q13.2CNV Type: Deletion
Largest CNV size: 969000 bp
Statistics Box:
Number of Reports: 1
Number of Reports: 1
Summary Information
A maternally-inherited deletion spanning this region was identified in a 4-year-old male patient with mild developmental delay and autistic features (Petersen et al., 2014).
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
Absence of skeletal anomalies in siblings with a maternally inherited 12q13.13-q13.2 microdeletion partially involving the HOXC gene cluster.
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
peterson_14_DD_discovery_cases
Second child of healthy non-consanguineous parents; older sister with history of failure to thrive, short stature, mild motor delay, and mild facial dysmorphism, mother and maternal grandmother with history of poor weight gain as children
1
Mild developmental delay, autistic features, facial dysmorphism, duplicated left ureter, and bilateral inguinal hernias.
4 yrs.
Male
969000
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
peterson_14_DD_discovery_cases-case1
4 yrs.
M
Developmental delay and autistic features
Birth/neonatal history: born full term by uncomplicated vaginal delivery to 29-year-old G2P1A0 mother and 30-year-old father; prenatal ultrasound identified left hydroureteronephrosis; birth weight of 4200 g (75th-90th %ile) and length of 53 cm (75th-90th %ile); renal and bladder ultrasound on day 2 revealed severe left upper pole hydroureteronephrosis (later found to be double collecting system wtih left ureter being dilated from ureteropelvic junction to ureterovesical junction); underwent left upper pole heminephroureterectomy at 4 months of age. Developmental milestones: mild developmental delay; sitting on time at 3-4 months of age, walking at 16 months of age, first words at 14 months. Motor and musculoskeletal evaluation: normal muscle tone; no skeletal anomalies identified. Behavioral/psychiatric evaluation: autistic features. Other features: bilateral inguinal hernias notable after second birthday, repaired at age of 2 years 9 months. Dysmorphic features: arched eyebrows, deep set eyes, left epicanthal fold, over-folded ears, wide nasal bridge, cupid bow shape of upper lip with smooth philtrum, high narrow palate, thin fingers with prominent fingertip pads and single-palmar creases bilaterally. Growth parameters: weight of 16 kg (10th-25th %ile), height of 107 cm (25th-50th %ile), and head circumference of 50.2 cm (25th-50th %ile) at 4 years of age. Family history: second child of healthy non-consanguineous parents; older female sibling (who also has 12q13.13-q13.2 deletion) with history of failure to thrive, short stature, mild motor delay and dysmorphic features; both mother (who also has 12q13.13-q13.2 deletion) and maternal grandmother with history of poor weight gain as children; despite being deletion carriers, both the proband's older sister and mother have normal intelligence; several family members on paternal side with mitochondrial encephalopathy with ragged red fibers (MERRF).
Mild developmental delay
53973301
54942341
969041
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
peterson_14_DD_discovery_cases-case1
FISH
Maternal
Simplex (for autistic features)
Incomplete segregation (sibling carrying deletion with mild motor delay, but no autistic features)
HOXC11,MIR196A2,HOXC-AS2,HOXC-AS1,HOXC8,MIR615,SMUG1-AS1,MIR3198-2,RN7SL390P,HNRNPA1,RNU6-950P,MIR148B,RN7SL744P,GPR84,LINC01154,PPP1R1A,GLYCAM1,LACRT,DCD,VDAC1P5,HOTAIR,HOXC-AS3,HOXC10,HOXC4,HOXC5,FLJ12825,FAM242C,NFE2,COPZ1,ZNF385A,ITGA5,GTSF1,PDE1B,MUCL1,HOXC6,HOXC9,SMUG1,LINC02381,CBX5,NCKAP1L
Controls
No Control Data Available
No Animal Model Data Available