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Tetrasomy for the short arm of chromosome 12 with accessory isochromosome (+i(12p)) and a marked LDH‐B gene dosage effect
Author(s) -
Steinbach P.,
Rehder H.
Publication year - 1987
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.1399-0004.1987.tb03314.x
Subject(s) - isochromosome , tetrasomy , fetus , biology , trisomy , chromosome 12 , chromosome , genetics , aneuploidy , karyotype , gene , pregnancy
A fetus with tetrasomy for the short arm of chromosome 12 due to a de novo accessory isochromosome i(12p) is described. Involvement of the 12p in this chromosome aberration was suggested by banding analysis and substantiated by detection of a marked increase of LDH‐B in the fetal fibroblasts. The syndrome shown by this fetus includes many of the minor anomalies described for live‐born patients with partial trisomy 12p, and in addition malformations including brachymelia, anal atresia and double kidneys.