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Partial trisomy 13q22→qter and monosomy 18q21→qter as a result of familial translocation

✍ Scribed by S Čekada; S Kilvain; B Brajenović-Milić; L Brečević; E Kirinčić-Paučić; J Franulović

Book ID
114811913
Publisher
John Wiley and Sons
Year
2007
Tongue
English
Weight
125 KB
Volume
88
Category
Article
ISSN
0803-5253

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Partial trisomy 17q22-qter and partial m
Partial trisomy 17q22-qter and partial monosomy Xq27-qter in a girl with a de novo unbalanced translocation due to a postzygotic error: Case report and review of the literature on partial trisomy 17qter
✍ 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