TY - JOUR
T1 - Preferential involvement of the short arm in chromosome 8-derived supernumerary markers and ring as identified by chromosome arm painting
AU - Batanian, Jacqueline R.
AU - Huang, Yufeng
AU - Gottesman, Gary S.
AU - Grange, Dorothy K.
AU - Blasingame, Alfreda V.
PY - 2000
Y1 - 2000
N2 - We report on the use of fluorescence in situ hybridization (FISH) with specific chromosome 8 arm painting to characterize further small supernumerary chromosome 8-derived markers/rings (SMC/SRC) identified in three patients. Two patients (patients 1 and 2) who carried the marker (SMC) were evaluated because of mental retardation and minor facial anomalies. The patient (patient 3) who carried the ring (SRC) had ventriculomegaly. Parental blood chromosomes of patients 2 and 3 were normal and unavailable on patient 1. The identification of the SMC/SRC was first characterized by FISH specific alpha-repeat centromeric probes, second by FISH whole chromosome painting (WCP), and finally by FISH chromosome arm painting (CAP). The latter showed involvement of only the short arm of chromosome 8 in all three SMC/SRC cases, suggesting a U-type exchange mechanism. (C) 2000 Wiley-Liss, Inc.
AB - We report on the use of fluorescence in situ hybridization (FISH) with specific chromosome 8 arm painting to characterize further small supernumerary chromosome 8-derived markers/rings (SMC/SRC) identified in three patients. Two patients (patients 1 and 2) who carried the marker (SMC) were evaluated because of mental retardation and minor facial anomalies. The patient (patient 3) who carried the ring (SRC) had ventriculomegaly. Parental blood chromosomes of patients 2 and 3 were normal and unavailable on patient 1. The identification of the SMC/SRC was first characterized by FISH specific alpha-repeat centromeric probes, second by FISH whole chromosome painting (WCP), and finally by FISH chromosome arm painting (CAP). The latter showed involvement of only the short arm of chromosome 8 in all three SMC/SRC cases, suggesting a U-type exchange mechanism. (C) 2000 Wiley-Liss, Inc.
KW - Partial tetrasomy 8p
KW - Partial trisomy 8p
KW - Supernumerary marker chromosome 8
KW - Supernumerary ring chromosome 8
UR - http://www.scopus.com/inward/record.url?scp=0033960751&partnerID=8YFLogxK
U2 - 10.1002/(SICI)1096-8628(20000214)90:4<276::AID-AJMG3>3.0.CO;2-I
DO - 10.1002/(SICI)1096-8628(20000214)90:4<276::AID-AJMG3>3.0.CO;2-I
M3 - Article
C2 - 10710223
AN - SCOPUS:0033960751
SN - 0148-7299
VL - 90
SP - 276
EP - 282
JO - American journal of medical genetics
JF - American journal of medical genetics
IS - 4
ER -