Description:
CRI-DU-CHAT SYNDROME
DERIVATIVE CHROMOSOME
COPY NUMBER VARIATION (CNV) REFERENCE PANEL 02
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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,XX,der(5)t(5;10)(p14.1;p12.3).ish der(5)t(5;10)(p14.1;p12.3)(D10S22490+,189N21-,D5S23/D5S721-,EGR1+,D5S2097+).arr 5p15.33p14.1(68519-27615390)x1,10p15.3p12.33(119857-19365515)x3
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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 |
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| Remarks |
Growth delay; cat-like cry; microcephaly; round face; hypertelorism; epicanthal folds; low-set ears; micrognathia; severe mental delay; hypotonia; speech delay; attention deficit; ventral and atrial septal defects; coarctation of the aorta; strabismus; clinodactyly; seizures; skin tags; feeding difficulties; G-tube; gagging and choking; drooling; affected sibling; simian crease on one hand |
| 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 |
| |
| 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 |
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