Genetic Problems: What To Look For?

Interviewer: I have seen that baby. That baby has Down syndrome. What would you be seeing, to say, that kid has Down syndrome? Interviewee: Here is an overall sort of what we call just start kind of diagnosis. So you know, Down syndrome is an overall kind of physical appearance but if you check each feature, it maybe present on that baby because the parent has. Interviewee: Having one of them does not mean he have it? Interviewer: Exactly. Interviewee: But all of them, what would be some other things you would say, Oops, that kid I think, is like the other. Interviewee: Well there is the up slanted eyes, there is a flattening of— Interviewer: Okay. Slanting what way? Downward or? Interviewee: Up side Interviewer: So it is V? Interviewee: Yes. Interviewer: Okay. Interviewee: They can have a flat nasal bridge. They can have a fold across the inside of the eye colon, Epicanthal fold. They have this sort of small mid-face, a down turning mouth and they are hypotonics, so they tend to have a mouth open and tongue profusion. They can have small ears. They can have flattening at the back of the head. Interviewer: Hey look at the palm, what do you see in the palm? Interviewee: They tend to have, actually very short stubby fingers and sometimes clubbed fifth finger? Interviewer: Right. Interviewee: And they can have an abnormal palm crease, a very popular sign. Interviewer: If you saw that crease and nothing else, not a big deal? Interviewee: Not a big deal. Interviewer: You can have the whole thing. Interviewee: You got to have more than just the crease. And you have to go— Interviewer: I am sure you got a coin sol just for the crease ones? Interviewee: We have got, just for the crease, baby born to 40-year old mother who did not have an am milk, you just can be comfortable. Maybe we do not [voice overlaps] Interviewer: It always happens at a Friday night and you are not around. Interviewee: Sure. Sure. Interviewer: Your mother is having a nervous break down and might come by and say your kid got to go to Harvard is that correct? Interviewee: Correct! Absolutely! Interviewer: Okay. Interviewee: Reassurance. Interviewer: Have you also go to nursing? They also look for a capule. Like recessive and small, what do you start thinking about? Interviewee: Well there are conditions where, you know, a small jaw can be associated with like cleft palate for example, or a small jaw can be -- it may not be a part of the syndrome, it may be just isolated. But sometimes you have a sequence of events that can go together and maybe the small jaw leads to the tongue not being in the mouth all the time and to see this, the tongue [voice overlaps] or it goes up into the palate and it can cause a cleft palate. So we have a sequence of events, something we call hear van sequence which is small jaw, protruding tongue— Interviewer: And you also look at the ears. Once you look at the ears, is it they do some work here? What would you be looking at the here. Interviewee: Again, just years in themselves may not mean affected but… Interviewer: What is the look? Interviewee: You look for locators. You look for [voice overlaps] Interviewer: How would you find a --- here? Interviewee: You draw a line out from the corner of the eye, like a horizontal line and one third of the ear is you shape off that line. Interviewer: It means, just… Interviewee: A --- Interviewer: Who says that? Interviewee: It is nothing. Since most of the time, it is nothing but it said if you find one or two minor, these are all minor methods. Interviewer: No one is perfect. Interviewee: No one is perfect. It is fine. If you find three, five, three to five minor malformations, all you find is a major birth defect along with these living minor dysmorphism. That is when you start wondering whether you should do chromosomes , whether you should look first and think of a syndrome, you know, going to that. So it has to be more than just a couple of many things. Interviewer: You also look at the extremities if they ever show at opposing to th