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Partial trisomy 6q, due to balanced maternal translocation (6;22) (q21; p13) or (q21; pter)
Author(s) -
Stamberg J.,
Shapiro J.,
Valle D.,
Kuhajda F. P.,
Thomas G.,
Wissow L.
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.tb00681.x
Subject(s) - imperforate anus , omphalocele , chromosomal translocation , encephalocele , karyotype , partial trisomy , trisomy , dup , biology , anus , anatomy , medicine , genetics , fetus , chromosome , pregnancy , gene duplication , gene
We report a stillborn infant with partial trisomy 6q who had several major congenital malformations not previously associated with this chromosomal aberration. These included occipital encephalocele, ambiguous genitalia with imperforate anus, omphalocele and unilateral hydronephrosis. The infant's karyotype was 46, XY,‐22, der(22), t(6;22)(q21; p13) or (q21;pter)mat. The mother and maternal grandmother are balanced translocation carriers.