A fetus with a chromosome 13 ring and placenta with chromosome 13 rod/ring mosaicism |
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| Authors: | P. A. Benn Ph.D. D. Warburton J. M. Byrne R. Rudelli A. Shonhaut K. Yeboa H. Mootabar L. Y. F. Hsu |
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| Affiliation: | 1. Department of Human Genetics and Development, College of Physicians and Surgeons, Columbia University, New York, N.Y., U.S.A.;2. Division of Developmental Pathology College of Physicians and Surgeons, Columbia University, New York, N. Y., U.S.A. New York State Institute for Basic Research in Mental Retardation, Stolen Island, New York, U.S.A.;3. New York State Institute for Basic Research in Mental Retardation, Stolen Island, New York, U.S.A.;4. Prenatal Diagnosis Laboratory of New York City (A service division of the Medical and Health Research Association of New York City, Inc.), New York, N.Y., U.S.A.;5. Department of Obstetrics and Gynecology, Roosevelt Hospital, New York, U.S.A. |
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| Abstract: | A fetus was identified by prenatal cytogenetic diagnosis as having a karyotype 46,XY,r(13) (p11q13). Termination of the pregnancy yielded a severely malformed fetus. Fetal abnormalities included anencephaly, imperforate anus and urethral meatus, severe talipes, syndactyly, cardiac defects and other anomalies. Confirmatory studies on cultured placental villi cells indicated a second cell line, 46,XY, −13,+ 13qter→cen::13ql3→qter. This cell line was not detectable in cells derived from the fetus despite extensive studies. It seems likely that the two cell lines arose simultaneously with selection favouring the 46,XY,r(13) line. How the chromosome rearrangements may have arisen is discussed. We are unaware of other cases where a cell line identifiable by a chromosome abnormality appeared to be confined to placental tissue. However, studies on placental tissue may be helpful in understanding the origin of other unbalanced de novo rearrangements. |
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| Keywords: | Ring chromosome 13 Rod/ring chromosome mosaicism Fetal/placental mosaicism |
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