Partial trisomy 6q, due to balanced maternal translocation (6;22) (q21; p13) or (q21; pter) |
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| Authors: | J. Stamberg J. Shapiro D. Valle F. P. Kuhajda G. Thomas L. Wissow |
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| Affiliation: | Departments of Pediatrics The Johns Hopkins School of Medicine, Baltimore, Maryland, U. S. A;Departments of Medicine The Johns Hopkins School of Medicine, Baltimore, Maryland, U. S. A;Departments of Pathology, The Johns Hopkins School of Medicine, Baltimore, Maryland, U. S. A |
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| Abstract: | ![]()
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. |
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| Keywords: | Chromosome 6 inherited translocation multiple malformations partial trisomy 6q |
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