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An Unusual Chromosome Abnormality2/D Translocation
Leonard E. Reisman, MD;
Shoichi Kasahara, MD
Am J Dis Child. 1968;115(5):625-628.
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| Since this article does not have an abstract, we have provided the first 150 words of the full text PDF and any section headings. |
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VARIOUS types of interchromosomal structural rearrangements now have been described in man. Transfer of genetic material from one chromosome to a nonhomologous chromosome generally involves breakage and subsequent reunion, with reciprocal exchange of the broken parts. This report describes an unusual translocation between chromosome 2 and a D-group chromosome (46, XX, t [29 –; Dq +]) in a child with profound mental retardation, failure to thrive, and other congenital anomalies. The presence of an abnormal phenotype suggests that translocation karyotype is an "unbalanced" one.
Report of a Case
This 27-month-old Negro girl was born at term to a 24-year-old unwed mother. Blood group incompatibilities indicated that the presumptive 32-year-old father of the propositus was not the biological father. The mother had vaginal bleeding for several days at six months' gestation, but the remainder of the pregnancy was uneventful. There was no history of drug ingestion, infection, or x-ray exposure during the
. . . [Full Text PDF of this Article]
Author Affiliations
Louisville
From the Division of Medical Genetics, Department of Pediatrics, University of Louisville School of Medicine.
Footnotes
Received for publication Oct 16, 1967.
Reprint requests to Child Evaluation Center, 340 E Madison St, Louisville 40202 (Dr. Reisman).
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