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Paper Details

Recurring germline mosaicism in a family due to reversion of an inherited derivative chromosome 8 from an 8;21 translocation with interstitial telomeric sequences.
J Med Genet
0
2023
8;21 translocation, Down syndrome, ITS, abnormal cell lines, cell line, chromosomal structural abnormalities, chromosome 21, chromosomes 8, chromosomes 8 and 21, der, der(8), der(8) cell line, derivative chromosome 8, idic(21), inherited der(8), inherited derivative chromosome 8, interstitial telomeric sequences, isodicentric chromosome 21, long arms, marker or ring chromosomes, normal cell, normal cell line, normal cells, normal chromosome 8, telomeric sequences, trisomy of the distal 21q
Author NameAffiliation
Weimin BiBaylor College of Medicine
Weimin Bi
Pengfei LiuBaylor College of Medicine
Pengfei Liu
James R LupskiBaylor College of Medicine
James R LupskiBaylor College of Medicine
James R LupskiTexas Children's Hospital
James R LupskiBaylor College of Medicine
James R LupskiBaylor College of Medicine
James R LupskiBaylor College of Medicine
James R LupskiTexas Children's Hospital
James R LupskiBaylor College of Medicine
Steven E SchererBaylor College of Medicine
Steven E SchererBaylor College of Medicine
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