Cytogenetics Set 1

For each of the following patients, select the most likely karyotype:

1. A 30-year-old man has gynecomastia along with decreased size of testes noted on physical exam. He works as a bank executive:

2. Adult men in several generations of a family are mentally retarded. Only a few women are affected, and to a lesser degree. The number of affected persons increases over the generations:

3. A fetus of 32 weeks gestation is stillborn and is noted at autopsy to have postaxial polydactyly, a horseshoe kidney, ventricular septal defect, and cleft lip and palate:

4. A 5-year-old boy develops a retinoblastoma of the left eye:

5. A stillborn female fetus at 18 weeks gestation is noted at autopsy to have hydrops, bilateral cystic hygroma, and coarctation of the aorta:

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A. 46, XX B. 47, XY, +18 C. 46, XX, t(9:22) D. 45, X E. 69, XXY
F. 47, XY, +13 G. 46, XY H. 47, XX, +16 I. 46, XY, del(13q) J. 47, XXX
K. 46, fra(X)(q27.3), Y L. 46, XY, mar(22) M. 47, XXY N. 45, XX, -14, -21, +t(14q:21q) O. 47, XYY
P. 46, XX, del(5p) Q. 46, XY, t(8:14) R. 46, XX /45, X S. 47, XY, +21 T. 46, XX, t(9:22)