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GM22910 LCL from B-Lymphocyte

Description:

CHROMOSOME 1P36 DELETION SYNDROME
CHROMOSOME DELETION

Affected:

No Data

Sex:

Male

Age:

No Data

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

Overview

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Repository NIGMS Human Genetic Cell Repository
Subcollection Chromosome Abnormalities
Biopsy Source Peripheral vein
Cell Type B-Lymphocyte
Tissue Type Blood
Transformant Epstein-Barr Virus
Sample Source LCL from B-Lymphocyte
Relation to Proband proband
Confirmation Karyotypic analysis after cell line submission to CCR
ISCN 46,XY,del(1)(p36.3).arr 1p36.33p36.31(51585-6551624)x1
Species Homo sapiens
Common Name Human
Remarks Small ears; low-set ears; ear asymmetry; thickened ear helices; slight deep-set eyes; slight hypertelorism; slight small palpebral fissures; downslanting palepebral fissures; flat nasal bridge; pointed chin; constipation.

Characterizations

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IDENTIFICATION OF SPECIES OF ORIGIN Species of Origin Confirmed by LINE assay
 
Cytogenetics Chromosome 1: DELETION Aneuploid Segment (-)del(1)(:p36.33>qter)

Phenotypic Data

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Demographic Data
Relation to Proband proband
Sex Male
 
Data Elements
Clinical Element Type: 1p36 Deletion Syndrome
  (Baseline)
Inheritance
De novo  Unknown
If no, give parental origin  Paternal
Rearrangement  Terminal
Deletion Size in Mb  6.5
Dysmorphic Features
Large anterior fontanelle  No
Microcephaly  Unknown
Brachycephaly  Unknown
Low hairline  Unknown
Small ears  Yes
Low-set ears  Yes
Ear asymmetry  Yes
Thickened ear helices  Yes
Synophrys  No
Deep-set eyes  Yes
Hypertelorism  Yes
Small palpebral fissures  Yes
Upslanting palpebral fissures  No
Downslanting palepebral fissures  Yes
Midface hypoplasia  No
Flat nasal bridge  Yes
Pointed chin  Yes
Clinodactyly  Unknown
Neurological
Mental retardation  Unknown
Developmental delay  Unknown
Speech delay  Unknown
Seizures  Unknown
Epileptic encephalopathy  Unknown
Hypotonia  Unknown
Feeding difficulties  Unknown
Oropharyngeal dysphasia  Unknown
Self-abusive behavior  No
Cardiovascular
Cardiomyopathy  Unknown
Structural congenital heart defects  Unknown
Patent foramen ovale  Unknown
Patent ductus arteriosus  Unknown
Ventricular septal defects  Unknown
Atrial septal defect  Unknown
Ebstein anomaly  Unknown
Bicommisural aortic valve  Unknown
Ophthalmologic and Audiologic
Hypermetropia (farsightedness)  Unknown
Myopia  Unknown
Strabismus  No
Visual inattentiveness  Unknown
Hearing problems  Unknown
Conductive hearing loss  Unknown
Sensorineural hearing loss  Unknown
Gastrointestinal
Constipation  Yes
Reflux  No
Ulcer  No
Hiatal hernia  No
Discomfort  No
Endocrine
Thryroid function studies  Unknown
Pubertal changes  No
MRI Abnormalities
Polymicrogyria  Unknown
Leukoencephalopathy  Unknown
Generalized atrophy  Unknown
Prominent ventricles  Unknown
Remarks Small ears; low-set ears; ear asymmetry; thickened ear helices; slight deep-set eyes; slight hypertelorism; slight small palpebral fissures; downslanting palepebral fissures; flat nasal bridge; pointed chin; constipation.

Publications

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Tang Z, Berlin DS, Toji L, Toruner GA, Beiswanger C, Kulkarni S, Martin CL, Emanuel BS, Christman M, Gerry NP, A dynamic database of microarray-characterized cell lines with various cytogenetic and genomic backgrounds G3 (Bethesda, Md)3:1143-9 2013
PubMed ID: 23665875
 
Gajecka M, Mackay KL, Shaffer LG, Monosomy 1p36 deletion syndrome American journal of medical genetics Part C, Seminars in medical genetics145C:346-56 2007
PubMed ID: 17918734

External Links

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NCBI GTR 607872 CHROMOSOME 1p36 DELETION SYNDROME
OMIM 607872 CHROMOSOME 1p36 DELETION SYNDROME
Omim Description MONOSOMY 1p36 SYNDROME

Culture Protocols

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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
International/Commercial/For-profit:
$373.00USD
U.S. Academic/Non-profit/Government:
$216.00USD
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