✦ LIBER ✦

“Essentially” pure trisomy 3q27 → qter: Further delineation of the partial trisomy 3q phenotype

✍ Scribed by Vera Grossmann; Doris Müller; Wilfried Müller; Friedrich Fresser; Martin Erdel; Andreas R. Janecke; Johannes Zschocke; Gerd Utermann; Dieter Kotzot

Publisher: John Wiley and Sons
Year: 2009
Tongue: English
Weight: 160 KB
Volume: 149A
Category: Article
ISSN: 1552-4825
DOI: 10.1002/ajmg.a.33058

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Pure duplication 1q41-qter: Further deli

Pure duplication 1q41-qter: Further delineation of trisomy 1q syndromes

✍ Leslie Domenici Kulikowski; Fernanda T.S. Bellucco; Sintia I. Nogueira; Denise M 📂 Article 📅 2008 🏛 John Wiley and Sons 🌐 English ⚖ 93 KB 👁 2 views

Trisomy 1q42→qter in a sister and brothe

Trisomy 1q42→qter in a sister and brother: Further delineation of the “trisomy 1q42→qter Syndrome”

✍ Verschuuren-Bemelmans, Corien C. ;Leegte, Beike ;Hodenius, Thea M. J. ;Cobben, J 📂 Article 📅 1995 🏛 John Wiley and Sons 🌐 English ⚖ 406 KB 👁 2 views

Partial trisomy 9—further delineation of

Partial trisomy 9—further delineation of the phenotype

✍ Smart, Ronald D. ;Viljoen, Denis L. ;Fraser, Brian ;Opitz, John M. ;Reynolds, Ja 📂 Article 📅 1988 🏛 John Wiley and Sons 🌐 English ⚖ 275 KB 👁 2 views

A patient with partial trisomy 9 (47,XX,+9pter----q22.1) had bilateral cleft lip and cleft palate, enophthalmos, severe micrognathia, small, apparently low-set ears, and dislocatable knees. The phenotypic findings are compared with those of other documented cases of total trisomy 9.

Clinical and molecular cytogenetic chara

Clinical and molecular cytogenetic characterization of two patients with partial trisomy 1q41-qter: Further delineation of partial trisomy 1q syndrome

✍ Emberger, Werner ;Petek, E. ;Kroisel, P. M. ;Zierler, H. ;Wagner, K. 📂 Article 📅 2001 🏛 John Wiley and Sons 🌐 English ⚖ 470 KB 👁 2 views

Prenatal diagnosis of partial trisomy 3q

Prenatal diagnosis of partial trisomy 3q(3q22→qter) and monosomy 6q(6q25.3→qter) in a fetus with sonographic findings of cystic hygromata colli and unilateral pleural effusion

✍ Chih-Ping Chen 📂 Article 📅 2001 🏛 John Wiley and Sons 🌐 English ⚖ 49 KB 👁 1 views

Trisomy 1q42.3-qter and monosomy 21q22.3

Trisomy 1q42.3-qter and monosomy 21q22.3-qter associated with ear anomaly, facial dysmorphology, psychomotor retardation, and epilepsy: Delineation of a new syndrome

✍ Karin Tuschl; Barbara Fritz; Marion Herle; Christa Fonatsch; Olaf A Bodamer 📂 Article 📅 2007 🏛 John Wiley and Sons 🌐 English ⚖ 136 KB