Abstract
We describe a case of a de novo terminal deletion of the long arm of chromosome 10 with the novel feature of congenital indifference to pain in a 2-year 10-month-old boy. Relative indifference to pain defined by a lack of emotional response to pain has not been described previously in association with the terminal deletion of the long arm of chromosome 10.
MeSH terms
-
Child, Preschool
-
Chromosome Banding
-
Chromosome Deletion*
-
Chromosomes, Human, Pair 10*
-
Developmental Disabilities / diagnosis
-
Developmental Disabilities / genetics
-
Ear, External / abnormalities
-
Emotions
-
Esotropia / diagnosis
-
Esotropia / genetics
-
Follow-Up Studies
-
Humans
-
Hypesthesia / diagnosis
-
Hypesthesia / genetics*
-
Infant
-
Infant, Newborn
-
Karyotyping
-
Male
-
Muscle Hypotonia / diagnosis
-
Muscle Hypotonia / genetics