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GM22936 LCL from B-Lymphocyte

Description:

CHROMOSOME 1P36 DELETION SYNDROME

Affected:

Yes

Sex:

Male

Age:

No Data

  • Overview
  • Characterizations
  • Phenotypic Data
  • Publications
  • External Links
  • Images
  • 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
Country of Origin USA
Relation to Proband proband
Confirmation Karyotypic analysis after cell line submission to CCR
ISCN 46,XY,del(1)(p36.3).arr[hg19]1p36.33p36.22(564620-7829761) X1
Species Homo sapiens
Common Name Human
Remarks Clinically affected; large anterior fontanelle; microcephaly; brachycephaly; low hairline; deep-set eyes; hypertelorism; downslanting palpebral fissures; flat nasal bridge; pointed chin; clinodactyly; cryptorchidism; mental retardation; developmental delay; speech delay; seizures (West syndrome); epileptic encephalopathy; neonatal hypotonia; feeding difficulties; self-abusive behavior; hypertrofic spongiform cardiomyopathy; structural congenital heart defects; patent ductus arteriosus; myopia; visual inattentiveness; hearing problems; bilateral sensorineural hearing loss; cataract of right eye; generalized atrophy; prominent ventricles; neuronal migration deficit; procedures include: coarctation of the aorta and ductus arteriosus; 7.2 MB deletion of chromosome 1p36 (453P22 deleted, de novo, apparently simple terminal truncation).

Characterizations

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

Phenotypic Data

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Demographic Data
Relation to Proband proband
Sex Male
Country USA
 
Data Elements
Clinical Element Type: 1p36 Deletion Syndrome
  (Baseline)
Inheritance
De novo  Unknown
If no, give parental origin  Paternal
Maternal age at time of delivery  28
Rearrangement  Terminal
Deletion Size in Mb  7.75
Dysmorphic Features
Large anterior fontanelle  Yes
Microcephaly  Yes
Brachycephaly  Yes
Low hairline  Yes
Small ears  No
Low-set ears  No
Ear asymmetry  No
Thickened ear helices  No
Synophrys  No
Deep-set eyes  Yes
Hypertelorism  Yes
Small palpebral fissures  No
Upslanting palpebral fissures  No
Downslanting palepebral fissures  Yes
Midface hypoplasia  No
Flat nasal bridge  Yes
Pointed chin  Yes
Clinodactyly  Yes
Neurological
Mental retardation  Yes
Developmental delay  Yes
Speech delay  Yes
Seizures  Yes
Epileptic encephalopathy  Yes
Hypotonia  Yes
Feeding difficulties  Yes
Oropharyngeal dysphasia  No
Self-abusive behavior  Yes
Cardiovascular
Cardiomyopathy  Yes
Structural congenital heart defects  Yes
Patent foramen ovale  No
Patent ductus arteriosus  Yes
Ventricular septal defects  No
Atrial septal defect  No
Ebstein anomaly  No
Bicommisural aortic valve  No
Ophthalmologic and Audiologic
Hypermetropia (farsightedness)  No
Myopia  Yes
Strabismus  No
Visual inattentiveness  Yes
Hearing problems  Yes
Conductive hearing loss  No
Sensorineural hearing loss  Yes
Gastrointestinal
Constipation  No
Reflux  Yes
Ulcer  No
Hiatal hernia  No
Discomfort  No
Endocrine
Thryroid function studies  No
Pubertal changes  Not Applicable
MRI Abnormalities
Polymicrogyria  No
Leukoencephalopathy  No
Generalized atrophy  Yes
Prominent ventricles  Yes
Remarks Clinically affected; large anterior fontanelle; microcephaly; brachycephaly; low hairline; deep-set eyes; hypertelorism; downslanting palpebral fissures; flat nasal bridge; pointed chin; clinodactyly; cryptorchidism; mental retardation; developmental delay; speech delay; seizures (West syndrome); epileptic encephalopathy; neonatal hypotonia; feeding difficulties; self-abusive behavior; hypertrofic spongiform cardiomyopathy; structural congenital heart defects; patent ductus arteriosus; myopia; visual inattentiveness; hearing problems; bilateral sensorineural hearing loss; cataract of right eye; generalized atrophy; prominent ventricles; neuronal migration deficit; procedures include: coarctation of the aorta and ductus arteriosus; 7.2 MB deletion of chromosome 1p36 (453P22 deleted, de novo, apparently simple terminal truncation).

Publications

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Kucharik M, Gnip A, Hyblova M, Budis J, Strieskova L, Harsanyova M, Pös O, Kubiritova Z, Radvanszky J, Minarik G, Szemes T, Non-invasive prenatal testing (NIPT) by low coverage genomic sequencing: Detection limits of screened chromosomal microdeletions PloS one15:e0238245 2020
PubMed ID: 32845907
 
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

Images

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View FISH 

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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