-transparent.png){kind=logo}
We report on a 7-year-old boy with minor anomalies, growth retardation, and developmental delay with an initial 46,XY,der(18)t(18;?)(q23;?) chromosome constitution. To determine the origin of the additional chromosome segment, several candidate regions were identified including 4q and 18q. Clinical comparison showed more similarities to individuals with partial dup(4q) than to those with a dup(18q). Whole chromosome fluorescence in situ hybridization (FISH) was used to demonstrate the correct origin of the translocated region, clarifying the karyotype as 46,XY,der(18)t(4;18)(q28.2;q22.2), thus generating information of clinical importance. This illustrates the use of whole chromosome FISH to identify chromosome regions that cannot be determined conclusively using standard cytogenetic banding techniques.
R Mewar, and
A D Kline, and
L Jackson, and
J Overhauser
January 1993,
Cytogenetics and cell genetics,
R Mewar, and
A D Kline, and
L Jackson, and
J Overhauser
January 1999,
Methods in molecular biology (Clifton, N.J.),
R Mewar, and
A D Kline, and
L Jackson, and
J Overhauser
January 1994,
Methods in molecular biology (Clifton, N.J.),
R Mewar, and
A D Kline, and
L Jackson, and
J Overhauser
March 1999,
The Tohoku journal of experimental medicine,
R Mewar, and
A D Kline, and
L Jackson, and
J Overhauser
February 1998,
American journal of medical genetics,
R Mewar, and
A D Kline, and
L Jackson, and
J Overhauser
July 1992,
Mayo Clinic proceedings,
R Mewar, and
A D Kline, and
L Jackson, and
J Overhauser
January 1997,
Cytogenetics and cell genetics,
R Mewar, and
A D Kline, and
L Jackson, and
J Overhauser
March 1994,
American journal of medical genetics,
R Mewar, and
A D Kline, and
L Jackson, and
J Overhauser
July 1993,
American journal of medical genetics,
R Mewar, and
A D Kline, and
L Jackson, and
J Overhauser
December 2011,
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics,
