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GM27949 Fibroblast

Description:

MACROGLOSSIA

Affected:

Yes

Sex:

Female

Age:

21 MO (At Sampling)

  • Overview
  • Characterizations
  • Phenotypic Data
  • External Links
  • Culture Protocols

Overview

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Repository NIGMS Human Genetic Cell Repository
Subcollection Heritable Diseases
Biopsy Source Tongue
Cell Type Fibroblast
Transformant Untransformed
Race White
Ethnicity Not Hispanic/Latino
Ethnicity European
Country of Origin USA
Family History N
Relation to Proband proband
Confirmation Clinical summary/Case history
Species Homo sapiens
Common Name Human
Remarks See "Phenotypic Data" Tab.

Characterizations

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PDL at Freeze 7.99
Passage Frozen 2
 
IDENTIFICATION OF SPECIES OF ORIGIN Species of Origin Confirmed by LINE assay
 

Phenotypic Data

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Demographic Data
Relation to Proband proband
Age at Sampling 21 MO
Sex Female
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:  GENETIC TESTING INCLUDING LIT1 METHYLATION, SNP ARRAY AND CDKN1C TESTING WAS NEGATIVE.
Age of Symptom Onset and Age at Diagnosis
In Utero History Information
Birth History Information
Additional Information:  SUBJECT WAS BORN TO A 31 YEAR OLD G3 P3 MOTHER AT 40 WEEKS, DELIVERY WAS NORMAL SPONTANEOUS VAGINAL DELIVERY; LARGE BABY- BORN 8LBS 14OZ; NO COMPLICATIONS
Dysmorphic Features
Additional Information:  MACROGLOSSIA; UNDERBITE; LARGE TONGUE
Neurological Symptoms
Optical and Audiological Symptoms
Musculoskeletal Symptoms
Additional Information:  RIGHT SIDED MUSCLE WEAKNESS
Developmental Milestones
Sitting Without Assistance:  Achieved and maintained
Walking Without Assistance:  Achieved and maintained
Additional Information:  SMILED AT 2 MONTHS; REACHED FOR OBJECTS AT 4 MONTHS; ROLLED OVER AT 6 MONTHS; SITTING WITHOUT SUPPORT SINCE 8.5 MONTHS; RECENTLY STARTED BOTTOM SHUFFLING; WALKED AT 17-18 MONTHS; TALKING SINCE 1 YEAR, HARD TO UNDERSTAND DUE TO MACROGLOSSIA; DOES SLUR WORDS DUE TO LARGE TONGUE; HAS CAUGHT UP TO MILESTONES - NO LONGER HAS DEVELOPMENTAL DELAYS
Gastrointestinal Symptoms
Eating difficulties
Additional Information:  HYPERLIPIDEMIA
Genitourinary Symptoms
Respiratory and Cardiovascular Symptoms
Additional Information:  OBSTRUCTED SLEEP APNEA (OSA); COUGH/WHEEZING/RESPIRATORY DISTRESS (SEEMS MORE UPPER AIRWAY RELATED DUE TO LARGE TONGUE AS OPPOSED TO ASTHMA
Cognitive and Behavioral Symptoms
Additional Information
Testing Performed
Metabolic, Hematologic, and Endocrinologic Testing:  ELEVATED TRIGLYCERIDES/HYPERLIPIDEMIA - WITH REGULAR DIET
Uncategorized Testing:  ABDOMINAL ULTRASOUND WITH NORMAL RESULTS AND HEMIHYPERTROPHY WAS NOT IDENTIFIED; METHYLATION, SNP ARRAY, AND CDKN1C TESTING ALL NEGATIVE
Treatments and Assistive Devices
Occupational therapy
Physical therapy
Speech therapy
Surgeries  OTHER THERAPY: FEEDING THERAPY
Additional Testing:  FEEDING THERAPY; PARTIAL GLOSSECTOMY; DIET FOCUSING ON MONOSATURATED FATS
Medications
 ALBUTEROL; BUDESONIDE; FLONASE; OMEGA 3
Family History
 A THREE GENERATION PEDIGREE WAS OBTAINED, NO KNOWN CONSANGUINITY REPORTED; SUBJECT HAS TWO BROTHERS, ONE WAS DIAGNOSED WITH HIGH FUNCTIONING AUTISM, ONE HAS A PELVIC KIDNEY; FATHER HAD RADIATION POISONING FROM THE MILITARY RESULTING IN LYMPH NODE AND TESTICULAR CANCER; PATERNAL GRANDFATHER'S BROTHER DIED IN HIS 60S FROM AN UNKNOWN CANCER; MATERNAL GRANDMOTHER WAS REPORTED TO HAVE A TREMOR THAT IS "POSSIBLY PARKINSON 'S"; MATERNAL GRANDFATHER'S SISTER HAD A SON WITH A CLEFT PALATE; MATERNAL GRANDFATHER HAD A BROTHER WITH CEREBRAL PALSY AND A SISTER WHO WAS A SMOKER AND DIED OF LUNG CANCER IN HER 50S
Remarks See "Phenotypic Data" Tab.

External Links

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NCBI GTR 153630 MACROGLOSSIA
OMIM 153630 MACROGLOSSIA
Omim Description MACROGLOSSIA

Culture Protocols

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Cumulative PDL at Freeze 7.99
Passage Frozen 2
Split Ratio 1:5
Temperature 37 C
Percent CO2 5%
Percent O2 AMBIENT
Medium Eagle's Minimum Essential Medium with Earle's salts and non-essential amino acids with 2mM L-glutamine or equivalent
Serum 15% fetal bovine serum Not inactivated
Supplement -
Pricing
International/Commercial/For-profit:
$373.00USD
U.S. Academic/Non-profit/Government:
$216.00USD
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