1p36 deletion syndrome

1p36 deletion syndrome

1p36 deletion syndrome (also known as monosomy 1p36) is a congenital genetic disorder characterized by moderate to severe intellectual disability, delayed growth, hypotonia, seizures, limited speech ability, malformations, hearing and vision impairment, and distinct facial features. The symptoms may vary, depending on the exact location of the chromosomal deletion.[1]

The condition is caused by a genetic deletion (loss of a segment of DNA) on the outermost band on the short arm (p) of chromosome 1. It is one of the most common deletion syndromes. It is estimated that the syndrome occurs in one in every 5,000 to 10,000 births. Knowledge of the disorder has increased a great deal over the last decade, mainly because more patients have been accurately diagnosed and described in international medical literature.

(via Wikipedia)

News : Ashlyn's Smile: Robert Horry's letter to his daughter

Robert Horry was all smiles on the court, thanks to his daughter, who recently died from a rare disorder.

Dear Ashlyn,Your beautiful smile has always been my inspiration. Although I am the father, you were my teacher, my hope and incentive, and my role model -- to your brother Camron and mother, Keva, as well. Born with courage and determination, you confronted and overcame the challenges of 1p36 deletion syndrome, a rare and disabling genetic disorder. My admiration for you is only outdone by your dazzling smile, immortal in my heart. I know you were constantly in pain, but you always endured with a smile. You were physically challenged, but it never prevented you from spreading warmth and love with pride and confidence. I wanted you to join the play of the other children on holidays, but that was my hardship -- you enjoyed the laughter and seized every moment. The appreciation of life, however brief it may be, was your gift to us, your loving family. And we will always remember that endearing smile, a smile that was contagious and admired by all. Houston was your home, the place where you underwent care and treatment and offered the same with your striking and infectious smile. My NBA career was a challenge because it kept me away from home, but no matter where I played -- Los Angeles or San Antonio -- my heart always remained in Houston. And I couldn't wait to visit so I could hold you. Daddy-daughter time was precious; I treasured our moments together and held onto your irresistible smile, my inspiration. My retirement finally enabled me to join you, and I witnessed the fighter spirit daily. The things we take for granted -- breathing, eating, walking -- were your obstacles. But you faced every challenge with courage and that charming smile that made everything better. You only had seventeen short years, not nearly enough time for me, but when I get angry, I think of your smile and the cheer you shared with everyone around you.pic16827.gifOn this day, Father's Day, your spirit is watching over me and making sure we are all safe and warm. I know you are smiling on life, love and family, and waiting for us to join you. There will come a time when we will again see that engaging smile that brought us so much joy each day of your life.In your loving memory, we will persistently seek to increase awareness of 1p36 deletion syndrome through your foundation. We will bring hope to others around the world, to the children who suffer from the same genetic disorder, and to those parents and families who share the same desperation. As the clock ticks, we will nudge medical science with your courage and determination and hope and pray that your eternal smile will offer the comfort that inspired me each day of your beautiful life. I will always love you. Love, Dad

(via NBA.com)