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Antenatal genetic diagnosis in a kindred with a 15p+ chromosome
Author(s) -
Hahnemann Niels,
Eiberg Hans
Publication year - 1973
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.1973.tb01934.x
Subject(s) - aunt , proband , marker chromosome , karyotype , genetics , genetic marker , chromosomal translocation , prenatal diagnosis , genetic counseling , chromosome , offspring , biology , chromosome 21 , angelman syndrome , medicine , pregnancy , mutation , fetus , gene , sociology , anthropology
Karyotype studies arc reported in 15 members of a kindred, a 15p+ marker chromosome being present in six of the members, including the proband as well as her mother and aunt. The proband was a Down's syndrome patient with a regular trisomy‐21 besides the marker chromosome. The marker chromosome could represent a Y/15 translocation, as judged from morphology and an intensive fluorescence of the extra material, or it could possibly be interpreted as a giant satellite. In relation to a case of genetic counseling in the aunt, including prenatal diagnosis, the question whether the marker chromosome may imply an increased risk of pathologic offspring is considered.