Familial paracentric inversion inv(2)(q31q36). 1985

M Schmid, and R Hofmann, and J Köhler, and U Jannek

A paracentric inversion of chromosome 2 is described for the first time. The breakpoints were localized in the bands q31 and q36. The paracentric inversion was initially identified in a female with repeated abortions and thereafter detected in eight other family members over three generations. The meiotic consequences and the risk for liveborn unbalanced chromosomal recombinants is discussed.

UI MeSH Term Description Entries
D007446 Chromosome Inversion An aberration in which a chromosomal segment is deleted and reinserted in the same place but turned 180 degrees from its original orientation, so that the gene sequence for the segment is reversed with respect to that of the rest of the chromosome. Inversion, Chromosome,Inversion, Chromosomal,Chromosomal Inversion,Chromosomal Inversions,Chromosome Inversions,Inversions, Chromosomal,Inversions, Chromosome
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
D010375 Pedigree The record of descent or ancestry, particularly of a particular condition or trait, indicating individual family members, their relationships, and their status with respect to the trait or condition. Family Tree,Genealogical Tree,Genealogic Tree,Genetic Identity,Identity, Genetic,Family Trees,Genealogic Trees,Genealogical Trees,Genetic Identities,Identities, Genetic,Tree, Family,Tree, Genealogic,Tree, Genealogical,Trees, Family,Trees, Genealogic,Trees, Genealogical
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
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
D002900 Chromosomes, Human, 1-3 The large, metacentric human chromosomes, called group A in the human chromosome classification. This group consists of chromosome pairs 1, 2, and 3. Chromosomes A,Group A Chromosomes,Chromosome, Group A,Chromosomes, Group A,Group A Chromosome
D005260 Female Females
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000026 Abortion, Habitual Three or more consecutive spontaneous abortions. Abortion, Recurrent,Miscarriage, Recurrent,Recurrent Early Pregnancy Loss,Habitual Abortion,Habitual Abortions,Recurrent Abortion,Recurrent Abortions,Recurrent Miscarriage,Recurrent Miscarriages

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