Pure trisomy 17q from a 17;21 translocation.
We present a female patient with a trisomy 17q23-->qter whose clinical picture clearly illustrates the pure trisomy 17q syndrome.
Barros Nuñez
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División de Genética, Instituto Mexicano de Seguridad Social (IMSS), Guadalajara, Jalisco, México.
Rolon
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Lizcano
L A
LA
Rivera
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H
D000015:Abnormalities, Multiple / Q000235:genetics*; D002886:Chromosomes, Human, Pair 17; D002891:Chromosomes, Human, Pair 21; D005145:Face / Q000002:abnormalities; D005260:Female; D006628:Hirsutism / Q000235:genetics; D006801:Humans; D007223:Infant; D007621:Karyotyping; D009123:Muscle Hypotonia / Q000235:genetics; D014178:Translocation, Genetic; D014314:Trisomy