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Prenatal diagnosis of a case of tetrasomy 9p
Author(s) -
McDowall A. A.,
Blunt S.,
Berry A. C.,
Fensom A. H.
Publication year - 1989
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.1970091110
Subject(s) - tetrasomy , prenatal diagnosis , chromosome , genetics , fetus , cytogenetics , biology , medicine , pregnancy , gene
A male fetus with tetrasomy 9p [47,XY, + i(9p)] is presented. The cytogenetic interpretation of the marker chromosome was confirmed by assessing the activity of the enzyme galactose I‐phosphate uridyl transferase. The clinical findings of the case show features in common with previously reported cases.