need help with something from pathology report

ChristyAnn · 09-11-2009, 06:48 AM

Received the report from our 5th m/c, and there's one thing I don't understand. for Karyotype, it has 46, XY, add (18)(p11.2). What does the p11.2 mean? TIA.

Sparklequeen · 09-14-2009, 12:42 PM

Hi Hun so sorry about your loss the xy means your baby was a boy and the 18 means trisomy 18 Edwards syndrome. Its means your baby had this but never had it full blown sorry if i am not explaining well enough. One of my losses my little girl had trisomy 13

I found out about what the numbers mean for you hun here goes.

What is Partial Trisomy?
Partial trisomy is the next type of trisomy, and there are two different types of partial trisomy. A partial trisomy occurs when only part of the extra chromosome exists in every cell. Chromosomes have two main parts - a "p" arm and a "q" arm. The "p" arm is the shorter of the two. Because of this division between the two parts, it is sometimes possible for only half of the chromosome to be present as extra information.

In the second instance, a "partial trisomy p or q" means that the child has only a portion of one or the other half of the chromosome. This is the most common type of partial trisomy, and comes with some crazy numbers. For example, 46XX, dup(18), (p12 -> p11.2) This means that only the portion of chromosome eighteen found between 12 and 11.2 on the short end of the chromosome is found in triplicate.

New genetics research has determined that there are different "qualities" of chromosomal material. Approximately equal amounts of triplicated chromosomal material from the q arm of chromosome 2, for example, cause more abnormalities than the same amount of triplicated material from the p arm. In other words, in our insatiable desire to predict “how affected” our child may be, we should not assume that just because they only have a partial trisomy they will be better off than those with full trisomy

Here is a web site that explaines more hun

http://www.trisomy18support.org/modu...php?category=3

XXX

ChristyAnn · 09-14-2009, 07:02 PM

Thank you, Sparklequeen.

Sparklequeen · 09-15-2009, 07:12 AM

Your welcome sweet heart XXX

09-11-2009, 06:48 AM	#1 (permalink)
ChristyAnn 1000-4999 post queen of hearts Join Date: Jan 2002 Location: Right Where I Should Be Posts: 1,214	need help with something from pathology report Received the report from our 5th m/c, and there's one thing I don't understand. for Karyotype, it has 46, XY, add (18)(p11.2). What does the p11.2 mean? TIA. __________________ Christy T J I had cast my lot with a soldier, and where he was, was home to me.Martha Summerhayes

09-14-2009, 12:42 PM	#2 (permalink)
Sparklequeen 200-299 post 4 of hearts Join Date: Sep 2009 Location: Here in the 2ww & TTC Boards. Posts: 283	Hi Hun so sorry about your loss the xy means your baby was a boy and the 18 means trisomy 18 Edwards syndrome. Its means your baby had this but never had it full blown sorry if i am not explaining well enough. One of my losses my little girl had trisomy 13 I found out about what the numbers mean for you hun here goes. What is Partial Trisomy? Partial trisomy is the next type of trisomy, and there are two different types of partial trisomy. A partial trisomy occurs when only part of the extra chromosome exists in every cell. Chromosomes have two main parts - a "p" arm and a "q" arm. The "p" arm is the shorter of the two. Because of this division between the two parts, it is sometimes possible for only half of the chromosome to be present as extra information. In the second instance, a "partial trisomy p or q" means that the child has only a portion of one or the other half of the chromosome. This is the most common type of partial trisomy, and comes with some crazy numbers. For example, 46XX, dup(18), (p12 -> p11.2) This means that only the portion of chromosome eighteen found between 12 and 11.2 on the short end of the chromosome is found in triplicate. New genetics research has determined that there are different "qualities" of chromosomal material. Approximately equal amounts of triplicated chromosomal material from the q arm of chromosome 2, for example, cause more abnormalities than the same amount of triplicated material from the p arm. In other words, in our insatiable desire to predict “how affected” our child may be, we should not assume that just because they only have a partial trisomy they will be better off than those with full trisomy Here is a web site that explaines more hun http://www.trisomy18support.org/modu...php?category=3 XXX __________________

09-14-2009, 07:02 PM	#3 (permalink)
ChristyAnn 1000-4999 post queen of hearts Join Date: Jan 2002 Location: Right Where I Should Be Posts: 1,214	Thank you, Sparklequeen. __________________ Christy T J I had cast my lot with a soldier, and where he was, was home to me.Martha Summerhayes

09-15-2009, 07:12 AM	#4 (permalink)
Sparklequeen 200-299 post 4 of hearts Join Date: Sep 2009 Location: Here in the 2ww & TTC Boards. Posts: 283	Your welcome sweet heart XXX __________________

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