Description:
CHROMOSOME DELETION
COPY NUMBER VARIATION (CNV) REFERENCE PANEL
|
Repository
|
NIGMS Human Genetic Cell Repository
|
| Subcollection |
Chromosome Abnormalities
dbGaP |
| Quantity |
25 µg |
| Quantitation Method |
Please see our FAQ |
|
Biopsy Source
|
Peripheral vein
|
|
Cell Type
|
B-Lymphocyte
|
|
Tissue Type
|
Blood
|
|
Transformant
|
Epstein-Barr Virus
|
|
Sample Source
|
DNA from LCL
|
|
Race
|
White
|
|
Relation to Proband
|
proband
|
|
Confirmation
|
Karyotypic analysis before cell line submission to CCR
|
|
ISCN
|
46,XY,del(6)(q26).ish del(6)(q26)(wcp6+,D62522-).arr 6q26q27(162860228-170761408)x1
|
|
Species
|
Homo sapiens
|
|
Common Name
|
Human
|
|
Remarks
|
|
| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin confirmed by LINE assay |
| |
| CNVPANEL |
For more information click here:CNVPANEL01 |
| |
| Cytogenetics |
Chromosome 6: DELETION Aneuploid Segment (-)6q26>6qter |
| Remarks |
Poor sucking, excessive drooling and difficulty swallowing were present in the neonatal period; developmental delay; epilepsy began at age 18 months with atonic attacks accompanied by cyanosis and rapidly followed by vomitting, without loss of consciousness; short neck; low frontal hairline; abnormal hair pattern; flat nasal bridge; hypertelorism; asymmetric face; short palpebral fissures; micrognathia; high arched palate; posteriorly rotated ears with hypertrophy of the antihelices; hypospadias; phimosis; hypotonia; hyperextensible joints; strabismus; hypermetropia; moderate mental retardation; hyperactivity; brain MRI showed colpocephaly, hypoplasia of the splenium of the corpus callosum, hypoplasia of the pons, and mild hypertrophy of the massa intermedia |
| 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 |
| |
| 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 |
| |
| Elia M, Striano P, Fichera M, Gaggero R, Castiglia L, Galesi O, Malacarne M, Pierluigi M, Amato C, Musumeci SA, Romano C, Majore S, Grammatico P, Zara F, Striano S, Faravelli F, 6q terminal deletion syndrome associated with a distinctive EEG and clinical pattern: a report of five cases Epilepsia47:830-8 2006 |
| PubMed ID: 16686647 |
|
|