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Partial trisomy 3q due to a de novo translocation t(X;3) (p21;q12)
Author(s) -
OORTHUYS J. W. E.,
SLATER R. M.,
BARROWCLOUGH H.,
KLEINE M. J. K. DE
Publication year - 1981
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.1399-0004.1981.tb01817.x
Subject(s) - partial trisomy , chromosomal translocation , karyotype , trisomy , congenital malformations , genetics , biology , medicine , chromosome , pregnancy , gene
A patient with several congenital malformations, principally in the face, cardiovascular system and genitalia, was found to have the karyotype 46 ,X,der(X),t,X;3)(Xqter← p21::3ql2‐←3qter). A comparison of the clinical and cytogenetical findings with similar cases in the literature led to the conclusion that a partial trisomy 3q is the most likely cause for the symptoms in this patient.