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Prenatal diagnosis and postnatal follow‐up of a child with two de novo unrelated balanced reciprocal translocations
Author(s) -
Pruggmayer M.,
Zoll B.,
Leipoldt M.,
Thies U.
Publication year - 1990
Publication title -
prenatal diagnosis
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.956
H-Index - 97
eISSN - 1097-0223
pISSN - 0197-3851
DOI - 10.1002/pd.1970100510
Subject(s) - chromosomal translocation , proband , chromosome analysis , chromosome , prenatal diagnosis , peripheral blood , karyotype , amniotic fluid , lymphocyte , genetics , pregnancy , medicine , biology , obstetrics , fetus , immunology , mutation , gene
Abstract Two unrelated, apparently balanced, reciprocal translocations involving chromosomes 3 and 17, and 10 and 15 were found in cultured amniotic fluid cells from a 41‐year‐old 10‐gravida. Chromosome analysis of peripheral blood lymphocytes of both parents revealed normal katryotypes. Post‐partum examination of lymphocyte cultures from the proband confirmed the chromosome rearrangements. The child showed normal development during follow‐up examinations up to the age of 4 years.