The propositus (Fig. 1 A and B, IV-2) was a male infant (W.G.H. 86 389) born to 16-year-old, apparently normal parents after a 35-week, uneventful gestation.The birth weight was 2.7 kg. (6 pounds ...

For decades, the Y chromosome — one of the two human sex chromosomes — has been notoriously challenging for the genomics community to sequence due to the complexity of its structure. Now, this elusive ...

Changes in chromosome structure in any individual cell are probably of no importance. That one cell won't function well and might die soon. Translocations are important when they occur in a large ...