TY - JOUR
T1 - 10p duplication characterized by fluorescence in situ hybridization
AU - Wiktor, A.
AU - Feldman, G. L.
AU - Kratkoczki, P.
AU - Ditmars, D. M.
AU - Van Dyke, D. L.
PY - 1994/1/1
Y1 - 1994/1/1
N2 - We describe a patient with severe failure to thrive, mild-moderate developmental delay, cleft lip and palate, and other anomalies. Routine cytogenetic analysis documented a de novo chromosome rearrangement involving chromosome 4, but the origin of the derived material was unknown. Using chromosome specific painting probes, the karyotype was defined as 46,XY,der(4) t(4;10)(q35;p11.23). Characterization of the dup(10p) by fluorescence in situ hybridization (FISH) analysis provides another example of the usefulness of this technology in identifying small deletions, duplications, or supernumerary marker chromosomes.
AB - We describe a patient with severe failure to thrive, mild-moderate developmental delay, cleft lip and palate, and other anomalies. Routine cytogenetic analysis documented a de novo chromosome rearrangement involving chromosome 4, but the origin of the derived material was unknown. Using chromosome specific painting probes, the karyotype was defined as 46,XY,der(4) t(4;10)(q35;p11.23). Characterization of the dup(10p) by fluorescence in situ hybridization (FISH) analysis provides another example of the usefulness of this technology in identifying small deletions, duplications, or supernumerary marker chromosomes.
KW - 10p duplication
KW - FISH
KW - chromosome painting probes
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U2 - 10.1002/ajmg.1320520312
DO - 10.1002/ajmg.1320520312
M3 - Article
C2 - 7528972
AN - SCOPUS:0028147096
SN - 0148-7299
VL - 52
SP - 315
EP - 318
JO - American Journal of Medical Genetics, Part A
JF - American Journal of Medical Genetics, Part A
IS - 3
ER -