✦ LIBER ✦

A girl with partial trisomy 5q35→qter and partial trisomy 13pter→q31 derived via a maternal balanced translocation

✍ Scribed by Atsushi Uchiyama; Noriyuki Haneda; Kyoko Saito; Satomi Miyamoto; Yuichi Takusa; Rie Kanai; Masahiko Kimura; Hitoshi Sejima; Seiji Yamaguchi

Book ID: 106120176
Publisher: Springer
Year: 2002
Tongue: English
Weight: 67 KB
Volume: 161
Category: Article
ISSN: 0340-6997
DOI: 10.1007/s00431-002-0946-4

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Severe upper airway stenosis in a boy wi

Severe upper airway stenosis in a boy with partial monosomy 16p13.3pter and partial trisomy 16q22qter

✍ Keitaro Yamada; Atsushi Uchiyama; Mayuki Arai; Kuniko Kubodera; Yutaka Yamamoto; 📂 Article 📅 2009 🏛 John Wiley and Sons 🌐 English ⚖ 190 KB

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

A case of partial trisomy 8p resulting f

A case of partial trisomy 8p resulting from a maternal balanced translocation

✍ Clark, Constance E. ;Telfer, Mary A. ;Cowell, Henry R. ;Summitt, Robert L. 📂 Article 📅 1980 🏛 John Wiley and Sons 🌐 English ⚖ 206 KB 👁 1 views

Prenatal diagnosis of partial trisomy 16

Prenatal diagnosis of partial trisomy 16p (16p12.2→pter) and partial monosomy 22q (22q13.31→qter) associated with increased nuchal translucency and abnormal maternal serum biochemistry in the first trimester

✍ Chih-Ping Chen; Tsang-Ming Ko; Yi-Ning Su; Chin-Yuan Hsu; Yi-Yung Chen; Jun-Wei 📂 Article 📅 2012 🏛 Elsevier Science 🌐 English ⚖ 857 KB

A girl with Down syndrome and partial tr

A girl with Down syndrome and partial trisomy for 21pter-q22.13: A clue to narrow the Down syndrome critical region

✍ Daisuke Sato; Hiroki Kawara; Osamu Shimokawa; Naoki Harada; Hidefumi Tonoki; Nob 📂 Article 📅 2007 🏛 John Wiley and Sons 🌐 English ⚖ 201 KB 👁 2 views

Partial trisomy of distal 5q and partial

Partial trisomy of distal 5q and partial monosomy of Xp as a result of mating between two translocation carriers: a female with a balanced translocation t(X;5)(p11;q31) and a male with a der(13;14)(q10;q10)—a case report and a family study

✍ Barbara Wysocka; Izabela Brożek; Jolanta Wierzba; Iwona Kardaś; Agnieszka Woźnia 📂 Article 📅 2002 🏛 Elsevier Science 🌐 English ⚖ 141 KB