Description:
CRI-DU-CHAT SYNDROME
CHROMOSOME DELETION
COPY NUMBER VARIATION (CNV) REFERENCE PANEL
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Chromosome Abnormalities
dbGaP |
| Quantity |
25 µg |
| Quantitation Method |
Please see our FAQ |
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Biopsy Source
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Peripheral vein
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Cell Type
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B-Lymphocyte
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Tissue Type
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Blood
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Transformant
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Epstein-Barr Virus
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Sample Source
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DNA from LCL
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Race
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Hispanic/Latino
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Ethnicity
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CUBAN
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Family Member
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1
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Relation to Proband
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proband
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Confirmation
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Karyotypic analysis after cell line submission to CCR
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ISCN
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46,XX,del(5)(p15.2p14).ish del(5)(p15.2p14)(C84C11T7+,D5S721-,D5S23-,EGR1+).arr 5p15.2p14.2(8686804-24072399)x1
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Species
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Homo sapiens
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Common Name
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Human
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Remarks
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase,Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis |
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| CNVPANEL |
For more information click here:CNVPANEL01 |
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| Cytogenetics |
Chromosome 5: DELETION Aneuploid Segment (-)5p15>5p14 |
| Remarks |
Line JL163; clinically affected; mental retardation; barely microcephalic; severe myopia; microophthalmia; hypertelorism with down-slanting anti-mongoloid palpebral fissures; nose has flattened, widened bridge; no micrognathia, but large teeth; small chin; ears with malformed pinnae with superior fold; thick lips; short 5th metacarpals; in-toes and has somewhat awkward gait; delayed milestones; wears glasses for strabismus; voice not typical of Cri-du-Chat patients; parental line for hybrid GM16596; same as GM08092 (fibro). |
| Walters-Sen L, Neitzel D, Bristow SL, Mitchell A, Alouf CA, Aradhya S, Faulkner N, Experience analysing over 190,000 embryo trophectoderm biopsies using a novel FAST-SeqS preimplantation genetic testing assay Reproductive biomedicine online44:228-238 2021 |
| PubMed ID: 35039224 |
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| Zhou B1,2, Ho SS1,2, Zhang X1,2, Pattni R1,2, Haraksingh RR3, Urban AE1,2,4., Whole-genome sequencing analysis of CNV using low-coverage and paired-end strategies is efficient and outperforms array-based CNV analysis Journal of Medical Genetics44:228-238 2018 |
| PubMed ID: 30061371 |
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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 |
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| Goodart SA, Simmons AD, Grady D, Rojas K, Moyzis RK, Lovett M, Overhauser J, A yeast artificial chromosome contig of the critical region for cri-du-chat syndrome. Genomics24(1):63-8 1994 |
| PubMed ID: 7896290 |
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