1p36 deletion syndrome is one of the most common subtelomeric microdeletion disorders, occurring in approximately 1 in 5,000 to 10,000 live births. This chromosomal abnormality results in a broad ...

Here, we present a 4-month-old patient with chromosome 1p36 deletion syndrome, which was not suspected from clinical findings before genetic testing and was successfully diagnosed by the NGS-first ...

SAN FRANCISCO, April 14 (UPI) --Researchers found an array of birth defects that affect the brain, eye, ear, heart and kidney are caused by mutations to a single gene, according to a new study. A gene ...

One in 5,000 babies is born missing a small amount of genetic material from the tip of chromosome 1, a region called 1p36. These children may also have delayed development, seizures, heart and kidney ...

One in 5,000 babies is born missing a small amount of genetic material from the tip of chromosome 1, a region called 1p36. Missing genes in the 1p36 region is a relatively common cause of intellectual ...

â Local boy among those affected by 1p36 Deletion Syndrome Shannon Bartlett didn't know if her baby would survive childbirth and wondered how long his heart would continue to pump after that.

When Cassady Thompson gave birth to a very healthy baby six years ago in North Kansas City, she had no idea that her daughter, Evelyn, would be diagnosed with a rare chromosome disease after her first ...

Robert Horry's daughter, Ashlyn, spent the first six months of her life at Texas Children's Hospital in Houston hooked up to oxygen. Not diagnosed immediately, Robert and his ex-wife, Keva, found out ...

FAYETTEVILLE, N.C. (WTVD) -- It's been weeks since 9-year-old Leovanni Batista has been able to communicate with his family. The boy has a rare chromosome deletion called 1p36 Deletion Syndrome, which ...

HOUSTON - (April 14, 2016) - One in 5,000 babies is born missing a small amount of genetic material from the tip of chromosome 1, a region called 1p36. Missing genes in the 1p36 region is a relatively ...