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[The biochemical marker dynamics of the maternal serum in different chromosomal disorders of the fetus].

The reasons for false-positive results of Down syndrome screening have been analysed. It has been found that the family pericentric inversions of chromosome 9 in fetus are accompanied by AFP and HCG changes equal to Down syndrome pregnancies. The average marker's levels in cases of per inv (9) were: AFp-0.51 MoM, HCG-3.71 MoM. The dynamics of markers in amniotic fluid has been studied. Clinical significance of per inv (9) in medicogenetic consultation were discussed.

Amniotic Fluid↗
PubMed1977

[Blood groups in chromosome disorders].

The authors investigated blood groups of two cases of polisomia, and 6 cases of chromosomal aberations. While the polisomia demonstrated no abnormalities of the blood groups, three cases of the chromosomal aberation show an alteration on the chromosome 2 and atypical inheritance of the MNSs groups, confirming autosomal location of these blood groups.

Blood Group Antigens↗
PubMed1998

Chromosomal disorders and autism.

Many cases of autism appear to be caused by several abnormal genes acting in concert. The literature on chromosomal aberrations in autism is reviewed, with a view to finding potential gene markers for the neuropsychiatric disorder. Most of the chromosomes have been implicated in the genesis of autism. However, aberrations on the long arm of Chromosome 15 and numerical and structural abnormalities of the sex chromosomes have been most frequently reported. These chromosomes appear to hold particular promise in the search for candidate genes.

Autistic Disorder↗