Description:
CRI-DU-CHAT SYNDROME
CHROMOSOME DELETION
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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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Family History
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N
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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,XY,del(5)(p15.2p14).ish del(5)(p15.2p14)(C84c11/T3+, D5S23/D5S721+,EGR1+, D5S2907+).arr 5p15.2p14.3(11627569-23243839)x1,5p14.1(27463534-28790473)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 LINE assay |
| |
| Cytogenetics |
Chromosome 5: DELETION Aneuploid Segment (-)5p14.2>5p15.1 |
| Remarks |
Microcephaly; round face; hypertelorism; epicanthal folds; low-set ears; micrognathia; mild mental delay; speech delay; attention deficit |
| 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 2022 |
| PubMed ID: 35039224 |
| |
| 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 |
| |
| Marinescu RC, Johnson EI, Grady D, Chen XN, Overhauser J, FISH analysis of terminal deletions in patients diagnosed with cri-du-chat syndrome. Clin Genet56(4):282-8 1999 |
| PubMed ID: 10636446 |
| View |
FISH Spectrum Green detects CB4C11/T3 ; Spectrum Orange detects D5S2907 |
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FISH Spectrum Green detects EGR-1 ; Spectrum Orange detects D5S23 |
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karyotype Spectrum Green detects EGR-1 ; Spectrum Orange detects D5S23 |
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