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Double trisomy 48,XXX,+18 in a newborn

โœ Scribed by Rosenfeld, Warren ;Verma, Ram S. ;Jhaveri, Ramesh C. ;Salazar, Delfor ;Dosik, Harvey


Publisher
John Wiley and Sons
Year
1981
Tongue
English
Weight
277 KB
Volume
8
Category
Article
ISSN
0148-7299

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โœฆ Synopsis


Abstract

We report the 6th case of double trisomy X and 18, ie, 48,XXX,+18. The infant lacked overlapping fingers, simian creases, and structural heart disease and is alive at 275 days. Two X chromosomes were late replicating. Anomalies of the hands and kidneys involved only the right side in the present case; review of the five previous cases of 48,XXX,+18 also showed that anomalies of kidneys, hands, and ears affected predominantly the right side in three patients.


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Prenatal diagnosis of simultaneous occurrence of double trisomy involving chromosomes 18 and X is extremely rare. We report on the prenatal diagnosis, genetic analysis and clinical manifestations of a fetus with both trisomy 18 and trisomy X. A 26-year-old, para 1 woman was referred for genetic coun