Showing posts with label chromosomes. Show all posts
Showing posts with label chromosomes. Show all posts

19 July 2012

Medical Genetics


by Eve Fisher

One of my many strange jobs was at a Medical Genetics Lab in the 80's.  It was your typical lab:  clean but shabby, hard-edged, hard-used.  The whole place reeked of what I called a "wrong smell" - which was basically amniotic fluid and chemicals.  Light came through glazed windows.  The samples came in bagged or bottled and sealed.  The results went out in plain brown envelopes.  The lab did buccal smears (cheek swabs) for babies, blood tests for children and adults, amniocenteses for pregnant women. 

The technicians would take the samples and distill them down to that one little drop that went under the electron microscope.  The next day I’d be handed a blurry 8 1/2 by 11 photograph, full of chromosomes no naked eye could ever, would ever see, transformed into inch-long fuzzy banded crosslets, tumbled and curled and overlaying one another like sleeping puppies.  My job was to sort them out.

I got to know those chromosomes really well.  Me and my trusty scissors untangled 9s from 4s, 18s from 21s, and set them in neat ordered pairs for the first time in their existence.  At first, like every Other, they all looked alike to me, but time and use and my own fancy gave them personalities.  The first five sets were large and strong and unmistakable -- any flaw in them and there would have been no being to be tested.  6 through 12 were like the dancing men of Sherlock Holmes:  jaunty, poised, often with one foot kicked up in dance or play.  16 through 20 were smaller but just as playful, children learning at their parents’ knees.  13 through 15 were Hopi women, with their looped hair risen above long blankets, or nuns in banded shawls; an elemental female image.  And then the mysterious, smaller shrouded shes, 21 and 22, solid, dark, impenetrable, unpitying, even when you winced with pain, even when you cried as you found a third come to join their pair, or one so damaged that nothing good could come...


When I found a trisomy or a monosomy or any other abnormality, I took it to the lab director.  She would inspect my work carefully, assuming - usually correctly - that I had made a mistake.  But when I hadn’t, the whole lab went into panic, running and re-running the test.  When the results were certain, the phone call was made to the patient’s doctor and the sealed plain brown envelope, stuffed with test results and interpretation, was hand-delivered to the doctor’s office.  What happened next was between the patient and her doctor, her family, her God.  We knew what the options were:  we made no recommendations, rarely learned the outcomes. 

The search for sex was a lot more fun.  I found the male in microcosm elusive, mainly because the Y chromosome looks nothing like a Y.  Half the time I thought it was a scrap of something else.  I started a lot of panics until I got it through my head that what looked to me like a tiny, flat-topped, spread-legged 21 was not a trisomic sister of doom, but a Y, a HE.  My only comfort, as I sat with my scissors and a worried look, was that over in the hospital, with the baby right there in front of them, they couldn’t tell either.  Parents panicking, doctors shrugging, nurses whispering, and all waiting for me (!) to find that other damn chromosome and tell them whether it was a girl or a boy.  

This happened a lot more often than you might think.  Mother Nature does not always get it right, or perhaps she just has a very perverse sense of humor...