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A large family with subtelomeric translocation t(18;21)(q23;q22.1) and molecular breakpoint in the Down syndrome critical region

✍ Scribed by O. Bartsch; Georg K. Hinkel; Michael B. Petersen; Ulrich König; Merete Bugge; Margareta Mikkelsen; Dimitris Avramopoulos; Michael Morris; Stylianos E. Antonarakis


Publisher
Springer
Year
1997
Tongue
English
Weight
488 KB
Volume
100
Category
Article
ISSN
0340-6717

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✍ Sebastio, Gianfranco; Perone, Lucia; Guzzetta, Vito; Sebastio, Lucia; Vicari, La 📂 Article 📅 1996 🏛 John Wiley and Sons 🌐 English ⚖ 45 KB 👁 3 views

We report on an aneuploidy syndrome due to the unbalanced segregation of a familial translocation (4;21)(p16.3;q22.1) causing a partial 4p monosomy and a partial 21q trisomy. The three affected children presented with severe failure to thrive, short stature, microcephaly, profound hypotonia, and men