Case Study 3 Trisomy 13

98 pizza way Dasani, Florida 52986

3/31/12

Denise and Mark Close

123 Harry Potter Rules drive

Cup holder, Florida 52903

Dear Mr. and Mrs. Close,

Dr. D and I have examined your child’s karyotype very closely.   Karyotype is a test we use to check your child’s abnormalities.  To do this test we line the baby’s chromosome and examine the chromosomes.  We check for diseases, and by doing this test we are able to determine the sex of the baby.  In this case Mr. and Mrs. Close I’m pleased to announce that Mrs. Close will be delivering a girl.  While we were determining the karyotype we found that your daughter has an extra copy 13 chromosome.

Having an extra copy of chromosome 13 is a rare disease called Trisomy 13 or Patau Syndrome.  Trisomy 13 is usually due to an egg cell, or, rarely a sperm cell which is formed containing one copy of each chromosome but an extra copy of chromosome 13.  Now rather the baby having 23 pairs of chromosome she has 24 pairs.  Once that egg is combined with the sperm which contains 23 chromosomes, the baby gets 47 chromosomes in the cell of their body rather than the usual 46.  Patau Sndrome also is more common is women who are pregnant at an age over 35.  Trisomy 13 can also occur if you have a family history of Patau Syndrome.  There are many physical defects because of Patau Syndrome.  A few of these defects are; Holoprosencephaly, polydactyly, flexion of the fingers, rocker-bottom feet, facial clefting, neutral tube defects, and heart defects.  These disorders are naturally long term affects.

There is no treatment for Trisomy 13 except for polydactyly, which is cured by surgery.  Sadly, if a child has Patau Syndrome she’ll pass away in fewer than three days.  The only thing you can offer your child is comfort and stay with her as long as you can.

As I said before if you have a history of Trisomy 13 you’ll have a higher risk of producing a Patau Syndrome.  Also if you’re over 35 years old and have a child you also have a higher risk of delivering a child with Trisomy 13.  Trisomy 13 is a very rare disease.  It occurs in about 1 in 5,000 to 1 in 12,000 in babies and usually common in baby girls.  I’m sorry to say if you were to have another child it’s a 50, 50 chance that the next child would be diseases with Patau Syndrome.

I’m sure you’ll spend time with your new daughter for as long as you can.  And I’m a 100% sure that your daughter will bring happiness and joy to your life as long as she’s alive.  Mr. and Mrs. Close I’m sure and positive you and your daughter will be a great family for as long as she survives.

Sincerly yours,

Doctor Irfan

Works Cited

"Trisomy 13." Genetics Home Reference. HONcode standard, 20/03/2011. Web. 23 Mar 2011. <http://ghr.nlm.nih.gov/condition/trisomy-13>.

"Trisomy 13- Patau Syndrome." Centre for Genetics Education. Australian Institute of Health and Welfare, 02/06/2007. Web. 23 Mar 2011. <http://www.genetics.com.au/pdf/factsheets/fs29.pdf>.

"Print this page ." Lucile Packard Children’s Hospital. Lucile Packard Foundation for Children’s Health , 2011. Web. 23 Mar 2011. <http://www.lpch.org/DiseaseHealthInfo/HealthLibrary/genetics/trisomy.html>.