TY - JOUR
T1 - Detection of chromosomal aberrations by a whole-genome microsatellite screen
AU - Rosenberg, Marjorie J.
AU - Vaske, David
AU - Killoran, Christina E.
AU - Ning, Yi
AU - Wargowski, David
AU - Hudgins, Louanne
AU - Tifft, Cynthia J.
AU - Meck, Jeanne
AU - Blancato, Jan K.
AU - Rosenbaum, Kenneth
AU - Pauli, Richard M.
AU - Weber, James
AU - Biesecker, Leslie G.
PY - 2000
Y1 - 2000
N2 - Chromosomal aberrations are a common cause of multiple anomaly syndromes that include developmental and growth retardation. Current microscopic techniques are useful for the detection of such aberrations but have a limit of resolution that is above the threshold for phenotypic effect. We hypothesized that a genomewide microsatellite screen could detect chromosomal aberrations that were not detected by standard cytogenetic techniques in a portion of these individuals. To test this hypothesis, we performed a genomewide microsatellite screen of patients, by use of a currently available genetic-marker panel that was originally designed for meiotic mapping of Mendelian traits. We genotyped ~400 markers on 17 pairs of parents and their children who had normal karyotypes. By using this approach, we detected and confirmed two cases of segmental aneusomy among 11 children with multiple congenital anomalies. These data demonstrate that a genomewide microsatellite scan can be used to detect chromosomal aberrations that are not detected by microscopic techniques.
AB - Chromosomal aberrations are a common cause of multiple anomaly syndromes that include developmental and growth retardation. Current microscopic techniques are useful for the detection of such aberrations but have a limit of resolution that is above the threshold for phenotypic effect. We hypothesized that a genomewide microsatellite screen could detect chromosomal aberrations that were not detected by standard cytogenetic techniques in a portion of these individuals. To test this hypothesis, we performed a genomewide microsatellite screen of patients, by use of a currently available genetic-marker panel that was originally designed for meiotic mapping of Mendelian traits. We genotyped ~400 markers on 17 pairs of parents and their children who had normal karyotypes. By using this approach, we detected and confirmed two cases of segmental aneusomy among 11 children with multiple congenital anomalies. These data demonstrate that a genomewide microsatellite scan can be used to detect chromosomal aberrations that are not detected by microscopic techniques.
UR - http://www.scopus.com/inward/record.url?scp=0033912695&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=0033912695&partnerID=8YFLogxK
U2 - 10.1086/302743
DO - 10.1086/302743
M3 - Article
C2 - 10677301
AN - SCOPUS:0033912695
SN - 0002-9297
VL - 66
SP - 419
EP - 427
JO - American journal of human genetics
JF - American journal of human genetics
IS - 2
ER -