Pallister-Killian Syndrome

Kelsey's story - by Shelly and Ettienne van Zyl

(toothconnection@aol.com)


Kelsey van Zyl

Born: December 7, 1995
Place: Memphis, Tennessee, USA

Allow me to tell you Kelsey's story.
My pregnancy was fairly uneventful except that around my fifth month, I began measuring farther along than I actually was. As was the case with one of the other mother's listed under the "real cases" section of this web site, I, too, was told I possibly had excessive amniotic fluid.

Kelsey was born on December 7, 1995, in Memphis, Tennessee, USA to my husband, Ettienne and myself. Kelsey at 1 day old. I was 27 years old when she was born.
She was a beautiful, healthy baby with a head full of black curly hair. Within a couple of months we noticed her hair thinning on her left side, starting at her temple and going around the back of her head. Kelsey at 6 months old with Peanut (notice the sparse hair). We didn't think too much of this, as babies tend to lose their hair (however, as we now know, not in this strange pattern).

When Kelsey was nine months old, I noticed uneven pigmentation on her arms, legs, and back. Over the next year, she was examined by her pediatrician, who thought her "striped" skin was fungal and a pediatric dermatologist, who was completely baffled! October 1997. Kelsey is almost 2 years old

On January 5, 1998, we took Kelsey to geneticist, Dr. Sid Wilroy, at LeBonheur Children's Hospital here in Memphis. She had a full body x-ray which showed good bone symmetry and no signs of any syndromes.
Seven days later, Dr. Wilroy performed a blood test and a skin biopsy on her arm.
A chromosome analysis revealed "mosaic tetrasomy 12p(47,XX + mar i(12)(p10)/46,XX) in skin; with normal 46, XX in blood, ratio 88/66.
So, Kelsey has 47 chromosomes instead of the usual 46 chromosomes in a portion of her cells (88 out of 154 cells examined - or 57%). Kelsey at 5 years old

Kelsey is now 6 years old and is ready to enter 1st grade. Her kindergarten teacher has recommended Kelsey for accelerated classes because she reads and performs math so well. Kelsey, May 2002.
Her hair has all filled in and other than her hyperpigmented skin, Kelsey displays no other characteristics of Pallister-Killian Syndrome.

God is so good and holds each and every one of his children in His loving care. We have no explanations as to why Kelsey has been so mildly affected while other precious little ones are affected so severely.

We long to talk to parents of other "Kelsey's" -- they have to be out there somewhere. Please contact us at

mailto: toothconnection@aol.com


Last update: 05 July 2002


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