Scientific journal
Научное обозрение. Медицинские науки
ISSN 2500-0780
ПИ №ФС77-57452

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PARTIAL TRISOMY 7Q22-Q32: DESCRIPTION OF RARE CASE OF CHROMOSOME ANOMALY AND LITERATURE REVIEW

Simonova V.V. 1 Vorsanova S.G. 2, 3 Kolotii A.D. 2, 3 Pinelis V.G. 1
1 Health Child Research Center
2 Mental Health Research Center
3 Institute of Pediatrics and Children Surgery
The paper reports the results of clinical and cytogenetic studies of girl with a rare previously undescribed chromosomal abnormality - a partial trisomy of chromosome involving region q22-q32: 7 (7q22-q32). At the G-staining in the karyotype of a child found additional genetic material of unknown origin in the long arm of chromosome 1. The mother of the proband revealed a balanced structural chromosomal rearrangement – 46, XX, ins (1;7) (q32; q22q32), inv (7) (p11.2; q11.23). Daughter inherited from the mother complex unbalanced chromosomal abnormality involving chromosomes 1 and 7. However, the definition of discontinuities in the data reconstructions of a classical karyotyping methods proved impossible because of the identical type G-staining regions 7q22 and 7q32, involved in the restructuring. The use of molecular cytogenetic diagnostics (FISH - method) has revealed a partial trisomy for the long arm of chromosome 7: karyotype 46, XX, der (1) ins (1, 7) (q 32;q22q32). The paper also provides an overview of clinical and genetic features indicative of high heterogeneity and variability of partial trisomy 7q.It is concluded that the allocation of cases of partial trisomy of chromosome 7 in a separate chromosomal syndrome is not possible without the use of modern technology genome-wide screening (array CGH), allowing to identify the gene and genomic imbalance at the level of the DNA sequences of the genome.