TY - JOUR
T1 - Girl with phenotypic abnormalities and a de novo, apparently balanced translocation 46,XX,t(5;10)(q35.2q11.2)
AU - Zhu, Guanshan
AU - Gillessen-Kaesbach, Gabriele
AU - Wirth, Jutta
AU - Passarge, Eberhard
AU - Bartsch, Oliver
PY - 2001/2/1
Y1 - 2001/2/1
N2 - We describe a three-year-old girl with a triangular face, epicanthus, midfacial hypoplasia, apparently low-set ears, a small mouth with thin vermilion border, and a small chin, hypermobile joints, developmental delay with insecure gait, dystonic movement disorder, speech defect, and a history of unexplained undernutrition. She has a de novo, apparently balanced translocation t(5;10)(q35.2;q11.2). Using fluorescence in situ hybridization (FISH), we located the breakpoints in the 1.5-Mb area defined by YAC 753f5 (5q35.2) and within the approximately 2-Mb interval between 10cen and YAC 933a3 (10q11.21).
AB - We describe a three-year-old girl with a triangular face, epicanthus, midfacial hypoplasia, apparently low-set ears, a small mouth with thin vermilion border, and a small chin, hypermobile joints, developmental delay with insecure gait, dystonic movement disorder, speech defect, and a history of unexplained undernutrition. She has a de novo, apparently balanced translocation t(5;10)(q35.2;q11.2). Using fluorescence in situ hybridization (FISH), we located the breakpoints in the 1.5-Mb area defined by YAC 753f5 (5q35.2) and within the approximately 2-Mb interval between 10cen and YAC 933a3 (10q11.21).
UR - http://www.scopus.com/inward/record.url?scp=0035254153&partnerID=8YFLogxK
U2 - 10.1002/1096-8628(20010201)98:4<317::AID-AJMG1129>3.0.CO;2-E
DO - 10.1002/1096-8628(20010201)98:4<317::AID-AJMG1129>3.0.CO;2-E
M3 - Journal articles
C2 - 11170074
AN - SCOPUS:0035254153
SN - 0148-7299
VL - 98
SP - 317
EP - 319
JO - American Journal of Medical Genetics
JF - American Journal of Medical Genetics
IS - 4
ER -
