Research output: Contribution to journal › Article › peer-review
The rRNA Gene Containing Marker Chromosome Associated with a Intellectual Disability : A Clinical Case Report. / Telepova, A. S.; Romanenko, S. A.; Lemskaya, N. A. et al.
In: Molecular Genetics, Microbiology and Virology, Vol. 33, No. 4, 01.10.2018, p. 241-244.Research output: Contribution to journal › Article › peer-review
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TY - JOUR
T1 - The rRNA Gene Containing Marker Chromosome Associated with a Intellectual Disability
T2 - A Clinical Case Report
AU - Telepova, A. S.
AU - Romanenko, S. A.
AU - Lemskaya, N. A.
AU - Maksimova, Yu V.
AU - Shorina, A. R.
AU - Yudkin, D. V.
PY - 2018/10/1
Y1 - 2018/10/1
N2 - Abstract: Marker chromosomes are structurally abnormal chromosomes that may be supernumerary in karyotype or replace one of the chromosomes. Marker chromosomes very frequently can be a cause of different pathologies, including a intellectual disability. This study considers the molecular cytogenetic analysis of an acrocentric marker chromosome in a patient with autism and a intellectual disability. With the help of the painting probe localization of human chromosomes, its origin from the pericentromeric regions of the p and q arms of chromosome 15 is shown. For more detailed detection of the region of origin of this chromosome, its microdissection following localization on both healthy control and patient metaphase plates was carried out. Its origin from the nucleolus-containing chromosome 15 is confirmed. Because of the rDNA-containing plasmid localization, two of the ribosome RNA gene clusters were detected on the patient’s chromosomes. Ag-NOR staining showed that both clusters are active. A possible contribution of the revealed chromosome pathology in clinical picture formation is discussed.
AB - Abstract: Marker chromosomes are structurally abnormal chromosomes that may be supernumerary in karyotype or replace one of the chromosomes. Marker chromosomes very frequently can be a cause of different pathologies, including a intellectual disability. This study considers the molecular cytogenetic analysis of an acrocentric marker chromosome in a patient with autism and a intellectual disability. With the help of the painting probe localization of human chromosomes, its origin from the pericentromeric regions of the p and q arms of chromosome 15 is shown. For more detailed detection of the region of origin of this chromosome, its microdissection following localization on both healthy control and patient metaphase plates was carried out. Its origin from the nucleolus-containing chromosome 15 is confirmed. Because of the rDNA-containing plasmid localization, two of the ribosome RNA gene clusters were detected on the patient’s chromosomes. Ag-NOR staining showed that both clusters are active. A possible contribution of the revealed chromosome pathology in clinical picture formation is discussed.
KW - 15q11–q13 region
KW - autism
KW - intellectual disability
KW - marker chromosome
KW - rRNA genes
KW - 15q11-q13 region
UR - http://www.scopus.com/inward/record.url?scp=85062278425&partnerID=8YFLogxK
U2 - 10.3103/S0891416818040080
DO - 10.3103/S0891416818040080
M3 - Article
AN - SCOPUS:85062278425
VL - 33
SP - 241
EP - 244
JO - Molecular Genetics, Microbiology and Virology
JF - Molecular Genetics, Microbiology and Virology
SN - 0891-4168
IS - 4
ER -
ID: 19262217