| 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. |
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| 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 |
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| 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 |
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| D005260 |
Female |
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Females |
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| D006801 |
Humans |
Members of the species Homo sapiens. |
Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man |
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| D000649 |
Amniocentesis |
Percutaneous transabdominal puncture of the uterus during pregnancy to obtain amniotic fluid. It is commonly used for fetal karyotype determination in order to diagnose abnormal fetal conditions. |
Amniocenteses |
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| 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 |
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| D055028 |
Comparative Genomic Hybridization |
A method for comparing two sets of chromosomal DNA by analyzing differences in the copy number and location of specific sequences. It is used to look for large sequence changes such as deletions, duplications, amplifications, or translocations. |
Array Comparative Genomic Hybridization,Array-Based Comparative Genomic Hybridization,Comparative Genome Hybridization,Array Based Comparative Genomic Hybridization,Comparative Genome Hybridizations,Comparative Genomic Hybridizations,Genome Hybridization, Comparative,Genome Hybridizations, Comparative,Genomic Hybridization, Comparative,Genomic Hybridizations, Comparative,Hybridization, Comparative Genome,Hybridization, Comparative Genomic,Hybridizations, Comparative Genome,Hybridizations, Comparative Genomic |
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| D018404 |
Isochromosomes |
Metacentric chromosomes produced during MEIOSIS or MITOSIS when the CENTROMERE splits transversely instead of longitudinally. The chromosomes produced by this abnormal division are one chromosome having the two long arms of the original chromosome, but no short arms, and the other chromosome consisting of the two short arms and no long arms. Each of these isochromosomes constitutes a simultaneous duplication and deletion. |
Isochromosome |
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| D020732 |
Cytogenetic Analysis |
Examination of CHROMOSOMES to diagnose, classify, screen for, or manage genetic diseases and abnormalities. Following preparation of the sample, KARYOTYPING is performed and/or the specific chromosomes are analyzed. |
Cytogenetic Techniques,Molecular Cytogenetic Techniques,Cytogenetic Technics,Molecular Cytogenetic Technics,Analyses, Cytogenetic,Analysis, Cytogenetic,Cytogenetic Analyses,Cytogenetic Technic,Cytogenetic Technic, Molecular,Cytogenetic Technics, Molecular,Cytogenetic Technique,Cytogenetic Technique, Molecular,Cytogenetic Techniques, Molecular,Molecular Cytogenetic Technic,Molecular Cytogenetic Technique,Technic, Cytogenetic,Technic, Molecular Cytogenetic,Technics, Cytogenetic,Technics, Molecular Cytogenetic,Technique, Cytogenetic,Technique, Molecular Cytogenetic,Techniques, Cytogenetic,Techniques, Molecular Cytogenetic |
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