BIOMAT Database Logo BIOMAT Database Logo

Pseudomosaicism in prenatal diagnosis: two simultaneous, independent reciprocal translocations. 1981

M M Cohen, and N E Balkin

Cytogenetic evaluation of cultured amniotic fluid cells showed mosaicism of three karyotypes: 46,XY; 46,XY [t(13;17)(q13;q25]; and 46, XY [t(11;12)(p11;q13)]. Reanalysis of cells from the four original culture flasks harvested individually revealed that both translocations derived from the same flask. Repeat amniocentesis, as well as peripheral blood obtained postnatally from a phenotypically normal male infant, demonstrated only normal chromosomes (46,XY). This observation represents a case of pseudomosaicism containing two different reciprocal translocations.

UI MeSH Term Description Entries
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.
D011247 Pregnancy The status during which female mammals carry their developing young (EMBRYOS or FETUSES) in utero before birth, beginning from FERTILIZATION to BIRTH. Gestation,Pregnancies
D011296 Prenatal Diagnosis Determination of the nature of a pathological condition or disease in the postimplantation EMBRYO; FETUS; or pregnant female before birth. Diagnosis, Prenatal,Fetal Diagnosis,Fetal Imaging,Fetal Screening,Intrauterine Diagnosis,Antenatal Diagnosis,Antenatal Screening,Diagnosis, Antenatal,Diagnosis, Intrauterine,Prenatal Screening,Antenatal Diagnoses,Antenatal Screenings,Diagnosis, Fetal,Fetal Diagnoses,Fetal Imagings,Fetal Screenings,Imaging, Fetal,Intrauterine Diagnoses,Prenatal Diagnoses,Prenatal Screenings,Screening, Antenatal,Screening, Fetal,Screening, Prenatal
D002877 Chromosomes, Human Very long DNA molecules and associated proteins, HISTONES, and non-histone chromosomal proteins (CHROMOSOMAL PROTEINS, NON-HISTONE). Normally 46 chromosomes, including two sex chromosomes are found in the nucleus of human cells. They carry the hereditary information of the individual. Chromosome, Human,Human Chromosome,Human Chromosomes
D003937 Diagnosis, Differential Determination of which one of two or more diseases or conditions a patient is suffering from by systematically comparing and contrasting results of diagnostic measures. Diagnoses, Differential,Differential Diagnoses,Differential Diagnosis
D005260 Female Females
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000328 Adult A person having attained full growth or maturity. Adults are of 19 through 44 years of age. For a person between 19 and 24 years of age, YOUNG ADULT is available. Adults
D014178 Translocation, Genetic A type of chromosome aberration characterized by CHROMOSOME BREAKAGE and transfer of the broken-off portion to another location, often to a different chromosome. Chromosomal Translocation,Translocation, Chromosomal,Chromosomal Translocations,Genetic Translocation,Genetic Translocations,Translocations, Chromosomal,Translocations, Genetic

Related Publications

M M Cohen, and N E Balkin
Prenatal diagnosis of a double heterozygote for two reciprocal translocations of familial origin.
October 1983, Prenatal diagnosis,
M M Cohen, and N E Balkin
[Prenatal diagnosis and clinical counseling for fetal chromosomal reciprocal translocations].
October 2013, Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics,
M M Cohen, and N E Balkin
Preimplantation genetic diagnosis in two couples with balanced reciprocal translocations.
September 2007, European journal of obstetrics, gynecology, and reproductive biology,
M M Cohen, and N E Balkin
A woman carrier of two apparently unrelated reciprocal translocations: prenatal diagnosis of normal karyotype in the foetus.
January 1979, Human genetics,
M M Cohen, and N E Balkin
Two whole arm reciprocal translocations.
January 1988, Journal of medical genetics,
M M Cohen, and N E Balkin
Meiosis in two human reciprocal translocations.
February 1979, Journal of medical genetics,
M M Cohen, and N E Balkin
Prenatal diagnosis and postnatal follow-up of a child with two de novo unrelated balanced reciprocal translocations.
May 1990, Prenatal diagnosis,
M M Cohen, and N E Balkin
United States survey on chromosome mosaicism and pseudomosaicism in prenatal diagnosis.
January 1984, Prenatal diagnosis,
M M Cohen, and N E Balkin
Meiotic behaviour of two human reciprocal translocations.
October 1981, Journal of medical genetics,
M M Cohen, and N E Balkin
Preimplantation genetic diagnosis (PGD) for reciprocal translocations.
July 2004, Prenatal diagnosis,
Copied contents to your clipboard!