Abstract
poster: XXV. Izakovičov memorial, Trenčianské Teplice We present a case of six-year old boy with autistic features and PMR with complex chromosomal rearrangement of three chromosomes, and further characterization of this aberration.
He was born from first high-risk pregnancy of a healthy young women. There were repeating bleedings in the first trimester of pregnancy; she suffered from stress throughout pregnancy for threats from the (methamphetamine-addict) partner who did not want the child's birth.
In the eighth month she had a car accident with brief unconsciousness, but without any serious injury. Child was delivered in the 39th week of pregnancy by caesarean section for placental abruption and threatening hypoxia.
From infancy, mother began to suspect his developmental delay (in particular the absence of vocal expression). He was examined by a specialist in his 1.5 year for the first time by neurologist for retarded psychomotor development, and later on he was also observed on child psychiatry for the suspicion of autism - diagnosis was not yet clearly confirmed nor refused.
Furthermore, there were signs of aggression, which disappeared later. He was first genetically examined in five years during hospitalization in a psychiatric clinic for children FNM.
Phenotype of the patient did not reveal any abnormality, but indicated basic cytogenetic examination revealed reconstruction of chromosomes 1, 3 and 15, which was further clarified by an examination mFISH and aCGH. Aberration is caused by at least 6 breakages; in certain break locations (particularly on chromosome 3) deletions of genetic material were identified.
Conference poster brings detailed results from analysis of aberration and their correlation with phenotype.