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Help - I never heard of anything like this

by Pinkflakes, Feb 04, 2008 01:42PM
Hello,  I am 34 years old and have had two miscarriages last year.  Doctor sent the tissue to lab after D&C for a genetic test since I had had two in a row.  I just got the result back and it was due to genetic abnormality (from the second miscarriage)  She said that it was trisomy 15 and 21. I know trisomy 21 is down syndrom (syndrome), but anywhere I look up, 15 is extremely rare and there is not much information about it.  Does anyone know what causes this particular disorder and what the chances are that I am going to have the same problem with the future pregnancies?  My doctor is sending me to a genetic counselor.  I also wonder what they do to help me.  Thanks in advance!  
Member Comments (1)

by mamaofonetrying42, Feb 04, 2008 01:51PM
Chromosome 15, Distal Trisomy 15q is an extremely rare chromosomal disorder in which the end (distal) portion of the long arm (q) of the 15th chromosome (15q) appears three times (trisomy) rather than twice in cells of the body. The disorder is characterized by growth delays before and/or after birth (prenatal and/or postnatal growth retardation); mental retardation; and/or distinctive malformations of the head and facial (craniofacial) area. Additional abnormalities typically include an unusually short neck; malformations of the fingers and/or toes; abnormal sideways curvature of the spine (scoliosis) and/or other skeletal malformations; genital abnormalities, particularly in affected males; and/or, in some cases, heart (cardiac) defects. The range and severity of symptoms and physical findings may vary from case to case, depending upon the length and location of the duplicated portion of chromosome 15q. In most cases, Chromosome 15, Distal Trisomy 15q is due to a chromosomal balanced translocation in one of the parents.


The genetic counselor will be the one to tell you more......
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