NA14489
DNA from Fibroblast
Description:
INVERTED DUPLICATION DELETION
Repository
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NIGMS Human Genetic Cell Repository
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Subcollection |
Chromosome Abnormalities Heritable Diseases dbGaP |
Class |
Disorders of Uncertain Biochemical Etiology |
Quantity |
10 µg |
Quantitation Method |
Please see our FAQ |
Cell Type
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Fibroblast
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Transformant
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Untransformed
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Sample Source
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DNA from Fibroblast
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Race
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White
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Relation to Proband
|
proband
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Confirmation
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Karyotypic analysis and In situ hybridization
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ISCN
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46,XX,der(4)dup(4p)inv(4)(p14p15.33).ish der(4)dup(4p)inv(4)(p14p15.33)(wcp4+,D4S96-).arr 4p16.3p15.33(56706-14790273)x1,4p15.33p14(14790934-36489063)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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Passage Frozen |
4 |
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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 and by Chromosome Analysis |
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Cytogenetics |
Chromosome 4: DELETION Aneuploid Segment (+)4p15.32>4p15.1 |
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Chromosome 4: DELETION Aneuploid Segment (-)4pter>4p15.32 |
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Chromosome 4: DUPLICATION Aneuploid Segment (+)4p15.32>4p15.1 |
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Chromosome 4: DUPLICATION Aneuploid Segment (-)4pter>4p15.32 |
Remarks |
Microcephaly; 'Greek helmut facies' with wide nares; sml orbits; micrognathia; bilateral low-set ears; short neck; prob contracture abnors; bilat shortening of 1st & 5th toes; bilat clinodactyly of 5th finger; small placenta |
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 |
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