𝔖 Bobbio Scriptorium
✦   LIBER   ✦

A new microduplication syndrome encompassing the region of the Miller-Dieker (17p13 deletion) syndrome

✍ Scribed by Roos, L. (author);Jønch, A. E. (author);Kjaergaard, S. (author);Taudorf, K. (author);Simonsen, H. (author);Hamborg-Petersen, B. (author);Brøndum-Nielsen, K. (author);Kirchhoff, M. (author)

Book ID
121359256
Publisher
BMJ Publishing Group
Year
2009
Tongue
English
Weight
892 KB
Volume
46
Category
Article
ISSN
0022-2593

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Miller-Dieker syndrome and monosomy 17p1
Miller-Dieker syndrome and monosomy 17p13:a new case
✍ A. Selypes; A. László 📂 Article 📅 1988 🏛 Springer 🌐 English ⚖ 467 KB

A 12-year-old boy is described with multiple anomalies and a de novo terminal deletion of 17p13. Based on clinical examination, the Miller-Dieker syndrome was diagnosed.

Risk of abnormal pregnancy outcome in ca
Risk of abnormal pregnancy outcome in carriers of balanced reciprocal translocations involving the Miller-Dieker syndrome (MDS) critical region in chromosome 17p13.3
✍ Pollin, Toni I.; Dobyns, William B.; Crowe, Carol A.; Ledbetter, David H.; Baile 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 52 KB 👁 2 views

We studied the pedigrees of 14 families segregating a reciprocal translocation with one breakpoint in chromosome 17p13 and the other in the distal region of another autosome. All 14 were ascertained on the basis of an affected index case: 13 had Miller-Dieker syndrome (MDS) and one had dup(17p). In