Partial trisomy 17q22-qter and partial m
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Sarri, C.; Gyftodimou, J.; Avramopoulos, D.; Grigoriadou, M.; Pedersen, W.; Pand
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Article
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1997
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John Wiley and Sons
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English
⚖ 501 KB
Partial trisomy 17q22-qter is a rare but well-recognized clinical entity. We present a case of partial trisomy for the long arm of chromosome 17, which was detected in a female infant with severe psychomotor and somatic retardation, Stargardt disease, short limbs, and numerous minor anomalies. Diffe