Anyone have chromosomal translocation? Mine is x and #8 chromosomes

Posted by penelopej62 @penelopej62, Feb 13 2:18pm

I’m assuming these things are all related, but am wondering if anyone else has something similar. Probably not, but thought I’d check. 🤔

I have a constitutional balanced reciprocal translocation of my chromosomes that caused infertility and primary amenorrhea, involving my X chromosome and my 8 chromosome.

Spinal: Only 4 lumbar-type vertebral bodies with a transitional lumbosacral segment.

Vascular: Aberrant Right Subclavian Artery (ARSA) coursing posterior to the esophagus.

Interested in more discussions like this? Go to the Heart & Blood Health Support Group.

Colleen Young, Connect Director | @colleenyoung | Feb 14 3:38pm

Welcome, @penelopej62. I added your discussion about chromosomal translocation to the Heart & Blood Health, Spine Health and Women's Health support groups based on the health implcations related to the constitutional balanced reciprocal translocation of your x and 8 chromosomes.

Often translocation can be asymptomatic. May I ask what health issues you've had to manage due to the translocation? What led to your having karyotyping to discover the chromosome switch?

penelopej62 | @penelopej62 | Feb 15 3:43pm

I was 17 years old and had never had a period. I had a checkup for sports in school, and the Dr. sent me to a gynecologist, who sent me to a University To get my karotype done.

I didn’t produce eggs, so couldn’t have children. I took Premarin and Progsterone until a hysterectomy; then Premarin only.

Since 1991 I’ve had high total Cholesterol, very high HDL (79-117 on 12 labs since 2006, and my MCH has been high every time since 2006 on 17 labs ( I don’t have any results from earlier.

These have to be related to my chromosomes.

penelopej62 | @penelopej62 | Feb 15 3:49pm

Also, it doesn’t seem to be my diet that’s the cause of this.

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