To a trained eye, the chromosome chart (karyotype) above has 4 irregularities, circled in red. They're chromosome pairs of uneven size.
The chromosomes represent genetic material missing or extra, but also a beautiful girl. Her father contacted me after he read my recent post about a friend's child with a rare mutation in a single gene, a more typical driver of so-called "diagnostic odysseys." Did I have any insight on treatments for his daughter? He'd send her lab reports.
The notations were in Hebrew, but the universal language of chromosome charts spoke clearly to me. The chromosome pairs are size-ordered, its members matching, but pairs 9, 14, 15, and 16 look like tall and short dance partners. This was something more profound than a single gene glitch, or even a missing or extra chromosome.
To continue reading, go to DNA Science, where this post first appeared.