BIOMAT Database Logo BIOMAT Database Logo

[Clinical and molecular cytogenetic analysis of a rare case of mosaicism for partial monosomy 3p and partial trisomy 10q in human]. 2001

T V Karamysheva, and V G Matveeva, and A P Shorina, and N B Rubtsov
Institute of Cytology and Genetics, Novosibirsk, 630090 Russia.

The results of comprehensive clinical examination and molecular cytogenetic analysis of a patient carrying chromosome 3p+ in 69% of the peripheral blood lymphocytes are presented. Using microdissection of the metaphase chromosomes followed by DOP-PCR, a DNA library specific for the abnormal chromosome was obtained. By fluorescence in situ hybridization (FISH) of this DNA library with chromosomes from the patient and a healthy donor, the aberrant chromosome was identified as der(3)t(3;10)(3p25;q24.3). Since this chromosome was present in only a proportion of patient's cells studied and no chromosome aberrations were revealed in cells of his parents, the der(3)t(3;10) is suggested to appear de novo. The cells carrying der(3)t(3;10) are monosomic for a proportion of 3p25 and trisomic for 10q24.3-->qter. The developmental malformations revealed in the patient, such as the specific features of facial skeleton, mental retardation, microcephaly, and others are similar to those described previously in patients with partial 3p monosomy and 10q trisomy.

UI MeSH Term Description Entries
D008297 Male Males
D009030 Mosaicism The occurrence in an individual of two or more cell populations of different chromosomal constitutions, derived from a single ZYGOTE, as opposed to CHIMERISM in which the different cell populations are derived from more than one zygote.
D002675 Child, Preschool A child between the ages of 2 and 5. Children, Preschool,Preschool Child,Preschool Children
D002872 Chromosome Deletion Actual loss of portion of a chromosome. Monosomy, Partial,Partial Monosomy,Deletion, Chromosome,Deletions, Chromosome,Monosomies, Partial,Partial Monosomies
D002879 Chromosomes, Human, Pair 10 A specific pair of GROUP C CHROMOSOMES of the human chromosome classification. Chromosome 10
D002893 Chromosomes, Human, Pair 3 A specific pair of human chromosomes in group A (CHROMOSOMES, HUMAN, 1-3) of the human chromosome classification. Chromosome 3
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000015 Abnormalities, Multiple Congenital abnormalities that affect more than one organ or body structure. Multiple Abnormalities
D014314 Trisomy The possession of a third chromosome of any one type in an otherwise diploid cell. Partial Trisomy,Chromosomal Triplication,Chromosomal Triplications,Partial Trisomies,Trisomies,Trisomies, Partial,Trisomy, Partial
D015723 Gene Library A large collection of DNA fragments cloned (CLONING, MOLECULAR) from a given organism, tissue, organ, or cell type. It may contain complete genomic sequences (GENOMIC LIBRARY) or complementary DNA sequences, the latter being formed from messenger RNA and lacking intron sequences. DNA Library,cDNA Library,DNA Libraries,Gene Libraries,Libraries, DNA,Libraries, Gene,Libraries, cDNA,Library, DNA,Library, Gene,Library, cDNA,cDNA Libraries

Related Publications

T V Karamysheva, and V G Matveeva, and A P Shorina, and N B Rubtsov
[Cytogenetic and molecular characterization of partial trisomy 4q and partial monosomy 10q in a patient].
April 2010, Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics,
T V Karamysheva, and V G Matveeva, and A P Shorina, and N B Rubtsov
Partial 10q trisomy with partial 12q monosomy.
December 1997, Archives of disease in childhood,
T V Karamysheva, and V G Matveeva, and A P Shorina, and N B Rubtsov
Molecular cytogenetic analysis of partial monosomy 10p and trisomy 10q resulting from familial pericentric inversion (10): a first case report in Chinese population.
June 2022, Molecular cytogenetics,
T V Karamysheva, and V G Matveeva, and A P Shorina, and N B Rubtsov
Partial and complete trisomy 14 mosaicism: clinical follow-up, cytogenetic and molecular analysis.
January 2014, Molecular cytogenetics,
T V Karamysheva, and V G Matveeva, and A P Shorina, and N B Rubtsov
Distal trisomy 10q/partial monosomy 14q: an unusual clinical picture.
January 2005, Genetic counseling (Geneva, Switzerland),
T V Karamysheva, and V G Matveeva, and A P Shorina, and N B Rubtsov
A case of partial trisomy 10q.
December 1974, Journal of mental deficiency research,
T V Karamysheva, and V G Matveeva, and A P Shorina, and N B Rubtsov
Molecular cytogenetic characterization of partial monosomy 2p and trisomy 16q in a newborn: A case report.
August 2019, Experimental and therapeutic medicine,
T V Karamysheva, and V G Matveeva, and A P Shorina, and N B Rubtsov
Severe mental retardation in a boy with partial trisomy 10q and partial monosomy 2q.
December 1976, Journal of medical genetics,
T V Karamysheva, and V G Matveeva, and A P Shorina, and N B Rubtsov
Prenatal diagnosis and molecular cytogenetic analysis of partial monosomy 10q (10q25.3-->qter) and partial trisomy 18q (18q23-->qter) in a fetus associated with cystic hygroma and ambiguous genitalia.
June 2005, Prenatal diagnosis,
T V Karamysheva, and V G Matveeva, and A P Shorina, and N B Rubtsov
Prenatal diagnosis and molecular cytogenetic characterization of de novo partial monosomy 3p (3p26.3→pter) and partial trisomy 16q (16q23.1→qter).
April 2016, Taiwanese journal of obstetrics & gynecology,
Copied contents to your clipboard!