TY - JOUR
T1 - Duplication 6q21q23 in two unrelated patients
AU - Pratt, V. M.
AU - Roberson, J. R.
AU - Weiss, L.
AU - Van Dyke, D. L.
PY - 1998/11/2
Y1 - 1998/11/2
N2 - We report on two patients with rare 6q duplications. The karyotype of patient 1 is 46,XY,dup(6)(q21q23.3). The karyotype of patient 2 is 46,XX,dup(6)(q21.15q23.3). These two patients have some nonspecific physical findings in common including a depressed nasal bridge, epicanthal folds, mild heart defects, and developmental delay, but each had other congenital anomalies. Am. J. Med. Genet. 80:112-114, 1998.
AB - We report on two patients with rare 6q duplications. The karyotype of patient 1 is 46,XY,dup(6)(q21q23.3). The karyotype of patient 2 is 46,XX,dup(6)(q21.15q23.3). These two patients have some nonspecific physical findings in common including a depressed nasal bridge, epicanthal folds, mild heart defects, and developmental delay, but each had other congenital anomalies. Am. J. Med. Genet. 80:112-114, 1998.
KW - Chromosome 6q duplication
KW - Congenital heart defect.
KW - Mild mental retardation
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U2 - 10.1002/(sici)1096-8628(19981102)80:2<112::aid-ajmg4>3.0.co;2-u
DO - 10.1002/(sici)1096-8628(19981102)80:2<112::aid-ajmg4>3.0.co;2-u
M3 - Article
C2 - 9805125
AN - SCOPUS:0032476230
SN - 1552-4825
VL - 80
SP - 112
EP - 114
JO - American Journal of Medical Genetics
JF - American Journal of Medical Genetics
IS - 2
ER -