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Partial trisomy 22—an old case reexamined

✍ Scribed by György Kosztolányi; Erica M. Bühler


Book ID
104708482
Publisher
Springer
Year
1985
Tongue
English
Weight
267 KB
Volume
69
Category
Article
ISSN
0340-6717

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Partial trisomy 17q22-qter and partial m
✍ Sarri, C.; Gyftodimou, J.; Avramopoulos, D.; Grigoriadou, M.; Pedersen, W.; Pand 📂 Article 📅 1997 🏛 John Wiley and Sons 🌐 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