TY - JOUR
T1 - A large family with subtelomeric translocation t(18;21)(q23;q22.1) and molecular breakpoint in the Down syndrome critical region
AU - Bartsch, Oliver
AU - Hinkel, Georg K.
AU - Petersen, Michael B.
AU - König, Ulrich
AU - Bugge, Merete
AU - Mikkelsen, Margareta
AU - Avramopoulos, Dimitris
AU - Morris, Michael
AU - Antonarakis, Stylianos E.
N1 - Funding Information:
Acknowledgements We wish to thank Hanne Poulsen, Arleta Frensel and the staff of the cytogenetics laboratory in Dresden for expert technical assistance, Dr. Walter Werner for aid with Fig. 3, and Dr. Sabine Schweigert (DKFZ, Heidelberg) for help with the Integrated Genomic Database. The work in the laboratory of O.B. was supported by the Sächsisches Ministerium für Wissenschaft und Kultur (DFG 3772–037–174) and the Bundesminister für Bil-dung, Wissenschaft, Forschung und Technologie (BEO–0311211), the studies of M.B. were supported by grant 16/92 from Fonden til Laegevidenskabens Fremme, Kong Christian den Tiendes Fond, Direktoer Jacob Madsens og Hustru Olga Madsens Fond, and Broedrene Hartmanns Fond, and the work of M.Mi. and M.B.P. was funded by grants from the Danish Human Genome Research Program and the EC BIOMED 1 and 2 Programs (Gene–CT93–0015 and BMH4–CT96–0554).
PY - 1997
Y1 - 1997
N2 - We describe a 17-month-old infant with clinical features of Down syndrome and a normal karyotype by standard chromosomal analysis, her two uncles aged 28 and 30 years, respectively, with reduced intelligence and unusual appearance but not apparent Down syndrome, and a severely retarded 6-year-old girl with dysmorphy and epilepsy from the same family. Cytogenetic studies of patients and normal intervening relatives had been carried out at different institutions with normal results. Fluorescence in situ hybridization using whole chromosome painting and unique-copy probes (cosmids) and high-resolution banding revealed a familial subtelomeric translocation of chromesomes 18 and 21, resulting in partial trisomy 21 in the infant and her two uncles, and partial monosomy 21 in the 6-year-old girl. Cytogenetic breakpoints were located in bands 18q23 and 21q22.1, respectively. The molecular breakpoint on chromosome 21 was located between D21S211 (proximal) and D21S1283 (distal) and thus maps within the Down syndrome critical region.
AB - We describe a 17-month-old infant with clinical features of Down syndrome and a normal karyotype by standard chromosomal analysis, her two uncles aged 28 and 30 years, respectively, with reduced intelligence and unusual appearance but not apparent Down syndrome, and a severely retarded 6-year-old girl with dysmorphy and epilepsy from the same family. Cytogenetic studies of patients and normal intervening relatives had been carried out at different institutions with normal results. Fluorescence in situ hybridization using whole chromosome painting and unique-copy probes (cosmids) and high-resolution banding revealed a familial subtelomeric translocation of chromesomes 18 and 21, resulting in partial trisomy 21 in the infant and her two uncles, and partial monosomy 21 in the 6-year-old girl. Cytogenetic breakpoints were located in bands 18q23 and 21q22.1, respectively. The molecular breakpoint on chromosome 21 was located between D21S211 (proximal) and D21S1283 (distal) and thus maps within the Down syndrome critical region.
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U2 - 10.1007/s004390050571
DO - 10.1007/s004390050571
M3 - Article
C2 - 9341890
AN - SCOPUS:0031410635
SN - 0340-6717
VL - 100
SP - 669
EP - 675
JO - Human genetics
JF - Human genetics
IS - 5-6
ER -