✦ LIBER ✦

Familial Miller-Dieker syndrome associated with pericentric inversion of chromosome 17

✍ Scribed by Greenberg, Frank ;Stratton, Robert F. ;Lockhart, Lillian H. ;Elder, Frederick F. B. ;Dobyns, William B. ;Ledbetter, David H. ;Opitz, John M. ;Reynolds, James F.

Publisher: John Wiley and Sons
Year: 1986
Tongue: English
Weight: 468 KB
Volume: 23
Category: Article
ISSN: 0148-7299
DOI: 10.1002/ajmg.1320230402

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Cryptic pericentric inversion of chromos

Cryptic pericentric inversion of chromosome 17 detected by fluorescence in situ hybridization study in familial Miller-Dieker syndrome

✍ Yokoyama, Yuji; Narahara, Koji; Teraoka, Michio; Koyama, Kiyoko; Seino, Yoshiki; 📂 Article 📅 1997 🏛 John Wiley and Sons 🌐 English ⚖ 8 KB 👁 2 views

Unique phenotype associated with a peric

Unique phenotype associated with a pericentric inversion of chromosome 6 in three generations

✍ Wenstrom, Katharine D. ;Muilenburg, Ann C. ;Patil, Shivanand R. ;Hanson, James W 📂 Article 📅 1991 🏛 John Wiley and Sons 🌐 English ⚖ 303 KB 👁 1 views

Two cousins with partial trisomy 12q and

Two cousins with partial trisomy 12q and monosomy 12p recombinants of a familial pericentric inversion of the chromosome 12

✍ Lagier-Tourenne, Clotilde ;Ginglinger, E. ;Alembik, Y. ;De Saint Martin, A. ;Pet 📂 Article 📅 2004 🏛 John Wiley and Sons 🌐 English ⚖ 133 KB 👁 1 views

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 👁 1 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

Ullrich-turner syndrome (45,X/46,X,i[Xq]

Ullrich-turner syndrome (45,X/46,X,i[Xq]) in a child with a familial inversion of chromosome 3

✍ Stine, Susan B. ;Clark, Constance E. ;Telfer, Mary A. ;Casey, Pamela A. ;Cowell, 📂 Article 📅 1982 🏛 John Wiley and Sons 🌐 English ⚖ 325 KB 👁 2 views

Miller-Dieker syndrome and trisomy 5p in

Miller-Dieker syndrome and trisomy 5p in a child carrying a derivative chromosome with a microdeletion in 17p13.3 telomeric to theLIS1 and the D17S379 loci

✍ Mutchinick, Osvaldo M.; Shaffer, Lisa G.; Kashork, Catherine D.; Cervantes, Elia 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 33 KB 👁 2 views

Trisomy 5p and Miller-Dieker syndromes frequently are the result of unbalanced segregations of reciprocal translocations of chromosomes 5 and 17 with other autosomes. The critical regions for the expression of the mentioned syndromes have been mapped to 5p13→pter, and 17p13.3→pter. In this report, w