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A 1/G Translocation in a Member of a Kindred With a Marker Chromosome
Nicholas H. Maganias, MD;
Louise Archambault, MS;
Kenneth L. Becker, MD, PhD;
John L. Winnacker, MD
Arch Intern Med. 1967;119(3):297-301.
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In RECENT years, the relationship between congenital malformations and chromosomal abnormalities has been well established. The present paper describes a mentally retarded girl with multiple congenital anomalies and a 1/G translocation. In addition, five members of the kindred in three consecutive generations had an abnormal G chromosome.
Report of Case
A 5-year-old white girl was brought to our attention in August 1965 because of somatic and mental retardation. She was the product of a full-term gestation, weighing 8 lb 5 oz (3.8 kg). During the mother's pregnancy, occasional bleeding, infection of the external genitalia, and anemia were observed. The rest of the child's history was uneventful except for pneumonia at the age of 1 month and chronic asthma.
Physical examination revealed a slightly somatically retarded child (Fig 1) weighing 36 lb 4 oz (16.4 kg), within the sixth percentile, and with a height of 39 inches (100.3 cm), below the
. . . [Full Text PDF of this Article]
Author Affiliations
Washington, DC
From the Veterans Administration Hospital and George Washington University, Washington, DC.
Footnotes
Received for publication July 26, 1966; accepted Oct 7.
Reprint requests to the Veterans Administration Hospital, 50 Irving St NW, Washington, DC 20422 (Dr. Maganias).
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