A 6-year-old girl, third pregnancy of a healthy mother and a deceased father due to a cerebrovascular event.
Fetal hypomotility.
Vaginal delivery at term, weight, height and Apgar unknown.
She presented weak whitening and large births.
One year later, patent ductus arteriosus was diagnosed, which required surgical correction.
Psychomotor development: mental illness for 12 months, sitting for 18 months, independent walking and binge eating at 3 years.
The patient was evaluated for mental retardation.
mental illness, mental illness, mental illness
He presented palmitating lesions and bilateral clinodactyly of the fifth finger.
Brain computed tomography and karyotype of 600 bands were normal.
Due to the phenotype, FISH was performed for 1p36 microdeletion, with Vysis LSI p58 probe (CD-C2L1) red spectrum/telVisquaion1p green spectrum to LSI.
The result showed the deletion [46,XX.ish del(1)(p36)(telVision1p-,p58-)].
The mother's karyotype and FISH were normal.
Primary immunodeficiency was ruled out due to recurrent respiratory infections.
He receives language therapy, does not structure sentences or controls sphincters.
It is overactive, with short periods of attention and visual contact, cutaneous scratching lesions are present.
