NA06918
DNA from Fibroblast
Description:
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 |
50 µg |
| Quantitation Method |
Please see our FAQ |
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Biopsy Source
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Arm
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Cell Type
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Fibroblast
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Tissue Type
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Skin
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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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Country of Origin
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USA
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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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Clinical summary/Case history
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ISCN
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46,XY,del(21)(q11.2q22).ish del(21)(wcp21+).arr 6q26(162784828-162990795)x1,21q11.2q22.11(15275679-32592618)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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| Passage Frozen |
2 |
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Chromosome Analysis |
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| FISH ANALYSES |
CCR FISH analysis with a chromosome 21-specific paint probe (coatasome 21, Oncor) showed a normal 21 and the del(21). No chromosome 21 material was seen on the 15p+. CCR G-banded chromosome analysis suggested that the 15p+ could have resulted from a two- to three-fold increase in the size of 15p11.2. DAPI staining showed the expected pattern, a large DAPI positive region spanning the additional material on 15p, to support this hypothesis. |
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| Cytogenetics |
Chromosome 21: DELETION Aneuploid Segment (-)21q11>21q22 |
| Remarks |
Multiple congenital malformations and developmental delay; mental retardation; multiple skeletal abnormalities; short stature; widow's peak; downward slanting palpebral fissures; high arched palate; micrognathia |
| Biricik A, Cotroneo E, Minasi MG, Greco PF, Bono S, Surdo M, Lecciso F, Sessa M, Fiorentino F, Spinella F, Greco E, Cross-Validation of Next-Generation Sequencing Technologies for Diagnosis of Chromosomal Mosaicism and Segmental Aneuploidies in Preimplantation Embryos Model Life (Basel, Switzerland)11: 2021 |
| PubMed ID: 33921258 |
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| 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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| 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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| Roberson ED, Wohler ES, Hoover-Fong JE, Lisi E, Stevens EL, Thomas GH, Leonard J, Hamosh A, Pevsner J, Genomic analysis of partial 21q monosomies with variable phenotypes European journal of human genetics : EJHG19:235-8 2010 |
| PubMed ID: 20823914 |
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| Reynolds JF, Wyandt HE, Kelly TE, De novo 21q interstitial deletion in a retarded boy with ulno-fibular dysostosis. Am J Med Genet20:173-80 1985 |
| PubMed ID: 3970070 |
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| Reynolds, De novo 21q interstitial deletion in a retarded male with unusual skeletal abnormalities. Am J Hum Genet35:150A (1983):173-80 1983 |
| PubMed ID: 3970070 |
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