The Monkey has many medical problems. Some are more serious than others. At the foundation are her two genetic abnormalities. Females have 2 X Chromosomes and Monkey has one that is normal and one that is inverted. Because she has a normal X Chromosome the Inverted X Chromosome does not affect her. However, Monkey also has a chromosomal deletion. She has a deletion of 1p36.3 and this is the culprit behind most if not all of my daughter’s problems.

Deletion of 1p36.3 have many signs and symptoms that accompany it and Monkey’s to date are:

• Small head (microbrachycephaly)
• Does not Speak
• Temper Tantrums
• Bites herself, hits herself (self injuring behaviors)
• Seizures
• Weak muscle tone (hypotonia)
• Swallowing difficulty
• Distinctive facial features (deep-set eyes, straight eyebrows, a broad, flat nose, a long area between the nose and mouth known as philtrum, a pointed chin, ears that are low set and abnormally shaped, and abnormal ear canal shape)
• Slight vision problem
• Developmental Delay
• C-Shaped pinkie fingers

  

  Monkey’s right hand. Notice the C-shaped pinkie finger.

• Short feet
• Scoliosis and Kyphosis skeletal problems
• Cardiac Problems have included PDA and VSD (PDA was remedied by surgery at age of 2)
• Gastrointestinal system (malrotation, abnormal GI anatomy placement, feeding tubes from nasal, to G-tube, to J-tube)
• Polycystic Kidney Disease
• Late closing anterior fontanel (Also called a soft spot)
• Low IQ
• Failure to thrive

Monkey’s deletion of 1p36.3 was discovered by the FISH genetic testing. It was not inherited by me as I was also tested. Most cases of deletion 1p36.3 are not inherited. For more information about Deletion 1p36.3 or Inverted X chromosomes I have found the Genetics Home Reference website to be a good resource.