Cytogenetics

For each of the following patient findings, select the most likely karyotype:

1. A newborn is noted to have brachycephaly, absent distal flexion creases of the fifth finger, bilateral transverse creases on the hands, upslanting palpebral fissures, and protruding tongue. A ventricular septal defect is present. What karyotype does the mother of this baby have:

2. A 43-year-old woman has a CBC that shows Hgb 12.6 g/dL, Hct 37.4%, MCV 85 fL, platelet count 105,000/microliter, and WBC count 247,000/microliter with differential count of 60 segs, 12 bands, 3 metamyelocytes, 1 myelocyte, 1 blast, 8 lymphs, 2 monos, 8 eos, and 5 basos. The leukocyte alkaline phosphatase score is low. A bone marrow biopsy is performed and the cells have this karyotype:

3. The ovary of a 46-year-old normal healthy woman has follicles containing ova with this karyotype:

4. A 5-year-old boy has leucocoria on the right, and a mass lesion is present. The eye is removed, and microscopically the mass is composed of small blue cells forming rosettes. Another child in the family is similarly affected:

5. A stillborn fetus delivered at 15 weeks is noted bo be small for gestatational age, with hands showing 3,4 syndactyly and with a prominent indented nasal bridge. The placenta demonstrates features of a partial hydatidiform mole:

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