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GM29126
LCL
from
B-Lymphocyte
Description:
CHROMOSOME XP11.3 DELETION SYNDROME
MONOAMINE OXIDASE A; MAOA
MONOAMINE OXIDASE B; MAOB
Affected:
Yes
Sex:
Male
Age:
3
YR
(At Sampling)
Sample Description
Overview
Characterizations
Phenotypic Data
External Links
Culture Protocols
Overview
Repository
NIGMS Human Genetic Cell Repository
Subcollection
Heritable Diseases
PIGI Consented Sample
Biopsy Source
Peripheral vein
Cell Type
B-Lymphocyte
Tissue Type
Blood
Transformant
Epstein-Barr Virus
Sample Source
LCL from B-Lymphocyte
Race
White
Subject Type
parent/child
Ethnicity
Not Hispanic/Latino
Ethnicity
Ashkenazi Jewish, Italian, and British
Country of Origin
USA
Family Member
1
Family History
N
Relation to Proband
proband
Confirmation
Molecular characterization before cell line submission to CCR
Species
Homo
sapiens
Common Name
Human
Remarks
See "Phenotypic Data" tab.
Characterizations
Gene
MAOA
Chromosomal Location
Xp11.3
Allelic Variant 1
deletion; BRUNNER SYNDROME; BRNRS
Identified Mutation
COMPLETE DELETION
; MONOAMINE OXIDASE A DEFICIENCY
Gene
MAOB
Chromosomal Location
Xp11.3
Allelic Variant 1
deletion; CHROMOSOME Xp11.3 DELETION SYNDROME
Identified Mutation
COMPLETE DELETION
Gene
PMP22
Chromosomal Location
17p11.2
Allelic Variant 1
deletion; NEUROPATHY, HEREDITARY, WITH LIABILITY TO PRESSURE PALSIES
Identified Mutation
COMPLETE DELETION
Phenotypic Data
Demographic Data
Relation to Proband
proband
Age at Sampling
3 YR
Sex
Male
Age of Onset(If not a control)
6 MO
Age at Diagnosis(If not a control)
1 YR
Hispanic or Latino/Not Hispanic or Latino
Not Hispanic/Latino
Racial Category
White
Country
USA
Data Elements
Clinical Element Type: General NIGMS Catalog Remarks
(Baseline)
Mutation Information
Gene, variant, consequence, and exon number:
COMPLETE DELETION OF MAOA, MAOB AND PINCR GENES (XP11.3 DELETION)
Zygosity:
Hemizygous
Other variants:
PATHOGENIC DELETION OF 17P12 REGION
Age of Symptom Onset and Age at Diagnosis
Age of Symptom Onset:
6 MONTHS
Age at Diagnosis:
1 YEAR
In Utero History Information
Additional Information:
NO PREGNANCY COMPLICATIONS REPORTED
Birth History Information
Dysmorphic Features
Microcephaly
Neurological Symptoms
Hypotonia
Structural brain anomaly
Additional Information:
LEFT TEMPORAL CORTICAL DYSPLASIA AND MILDLY HYPOPLASTIC BRAINSTEM
Optical and Audiological Symptoms
Musculoskeletal Symptoms
Developmental Milestones
Delayed speech and language development
Global developmental delay
Delayed fine motor skills
Delayed gross motor skills
Abnormal weight for age
Additional Information:
NON VERBAL
Gastrointestinal Symptoms
Constipation
Additional Information:
ABDOMINAL PAIN AND DISTENTION
Genitourinary Symptoms
Respiratory and Cardiovascular Symptoms
Cognitive and Behavioral Symptoms
Autism spectrum disorder
Additional Information
Testing Performed
Neurological Testing:
EEG-NORMAL; MRI-LEFT TEMPORAL CORTICAL DYSPLASIA
Uncategorized Testing:
MOLECULAR GENETIC TESTING - CHROMOSOMAL MICRO ARRAY
Treatments and Assistive Devices
Occupational therapy
Physical therapy
Speech therapy
Orthotics
Medications
CYPROHEPTADINE
Family History
Remarks
See "Phenotypic Data" tab.
External Links
NCBI GTR
300578 CHROMOSOME Xp11.3 DELETION SYNDROME
OMIM
300578 CHROMOSOME Xp11.3 DELETION SYNDROME
Culture Protocols
Split Ratio
1:4
Temperature
37 C
Percent CO2
5%
Percent O2
AMBIENT
Medium
Roswell Park Memorial Institute Medium 1640 with 2mM L-glutamine or equivalent
Serum
15% fetal bovine serum Not Inactivated
Substrate
None specified
Subcultivation Method
dilution - add fresh medium
Supplement
-
Pricing
Commercial/For-profit:
$311.00
USD
Academic/Non-profit/Government:
$176.00
USD
Add to Cart
How to Order
Ordering Instructions
MTA / Assurance Form
Statement of Research Intent Form
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