Description:
SPERMATOGENIC FAILURE, Y-LINKED, 2; SPGFY2
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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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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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arr Xp22.31(8555819-8662277)x2,Yq11.223q11.23(24317745-26566631)x0
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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 Nucleoside Phosphorylase,Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis |
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| Remarks |
Clinically affected; mixed Sertoli cell only and testicular maturation arrest, no sperm detected in testicular biopsy sample; the following Y chromosome loci were analyzed by PCR: SRY+,RPS4Y+,ZFY+,RBMY+,PRKY+,AMELY+,PRY+,TSPY+,USP9Y+,VCY+,UTY+,TMSB4Y+,VCY+,CDY2+,XKRY+,SMCY+,EIF1AY+,RBMY1+,PRY+,DYS230+,BPY2-,DAZ-,CDY1-, and DYZ1+ |
| 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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| Oates RD, Silber S, Brown LG, Page DC, Clinical characterization of 42 oligospermic or azoospermic men with microdeletion of the AZFc region of the Y chromosome, and of 18 children conceived via ICSI Hum Reprod17(11):2813-24 2002 |
| PubMed ID: 12407032 |
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| Kuroda-Kawaguchi T, Skaletsky H, Brown LG, Minx PJ, Cordum HS, Waterston RH, Wilson RK, Silber S, Oates R, Rozen S, Page DC, The AZFc region of the Y chromosome features massive palindromes and uniform recurrent deletions in infertile men. Nat Genet29(3):279-86 2001 |
| PubMed ID: 11687796 |
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