Biomaterial Database

Prenatal diagnosis in the presence of an extra small chromosome in amniotic cell culture. 1980

H Chen, and J Harris

The amniotic fluid of a 20 years old Caucasoid woman was brought in for analysis because of a previous child with anencephaly. Q-banded karyotypes disclosed 47,XY, +mar. Clinical significance of this karyotype could not be determined. The couple elected therapeutic termination but were denied because the pregnancy was over 23 weeks gestation. Her blood culture revealed also 47,XX, +mar. Silver staining revealed the marker chromosome bisatellited. C-banded karyotypes revealed the marker chromosome with one C-band. This inherited marker chromosome, composed of satellites, stalks, and constitutive heterochromatin without other observable chromosomal material present, suggested that it may be genetically inactive. A normal baby boy was delivered and his 47,XY, +mar karyotype confirmed. In addition to the family study, silver staining and the C-banding procedures are indicated to determine the morphology of satellites, stalks, and constitutive heterochromatin, and the presence or absence of other chromosomal materials in the extrasmall chromosome in amniotic fluid cultures.

UI	MeSH Term	Description	Entries
D007231	Infant, Newborn	An infant during the first 28 days after birth.	Neonate,Newborns,Infants, Newborn,Neonates,Newborn,Newborn Infant,Newborn Infants
D007621	Karyotyping	Mapping of the KARYOTYPE of a cell.	Karyotype Analysis Methods,Analysis Method, Karyotype,Analysis Methods, Karyotype,Karyotype Analysis Method,Karyotypings,Method, Karyotype Analysis,Methods, Karyotype Analysis
D008297	Male		Males
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
D002478	Cells, Cultured	Cells propagated in vitro in special media conducive to their growth. Cultured cells are used to study developmental, morphologic, metabolic, physiologic, and genetic processes, among others.	Cultured Cells,Cell, Cultured,Cultured Cell
D002869	Chromosome Aberrations	Abnormal number or structure of chromosomes. Chromosome aberrations may result in CHROMOSOME DISORDERS.	Autosome Abnormalities,Cytogenetic Aberrations,Abnormalities, Autosome,Abnormalities, Chromosomal,Abnormalities, Chromosome,Chromosomal Aberrations,Chromosome Abnormalities,Cytogenetic Abnormalities,Aberration, Chromosomal,Aberration, Chromosome,Aberration, Cytogenetic,Aberrations, Chromosomal,Aberrations, Chromosome,Aberrations, Cytogenetic,Abnormalities, Cytogenetic,Abnormality, Autosome,Abnormality, Chromosomal,Abnormality, Chromosome,Abnormality, Cytogenetic,Autosome Abnormality,Chromosomal Aberration,Chromosomal Abnormalities,Chromosomal Abnormality,Chromosome Aberration,Chromosome Abnormality,Cytogenetic Aberration,Cytogenetic Abnormality
D002871	Chromosome Banding	Staining of bands, or chromosome segments, allowing the precise identification of individual chromosomes or parts of chromosomes. Applications include the determination of chromosome rearrangements in malformation syndromes and cancer, the chemistry of chromosome segments, chromosome changes during evolution, and, in conjunction with cell hybridization studies, chromosome mapping.	Banding, Chromosome,Bandings, Chromosome,Chromosome Bandings
D005260	Female		Females
D005819	Genetic Markers	A phenotypically recognizable genetic trait which can be used to identify a genetic locus, a linkage group, or a recombination event.	Chromosome Markers,DNA Markers,Markers, DNA,Markers, Genetic,Genetic Marker,Marker, Genetic,Chromosome Marker,DNA Marker,Marker, Chromosome,Marker, DNA,Markers, Chromosome