✦ LIBER ✦

Duplication of (12)(pter-q13.3) combined with deletion of (22)(pter-q11.2) in a patient with features of both chromosome aberrations

✍ Scribed by Nataliya A. Tyshchenko; Mariluce Riegel; Elena G. Evseenkova; Tatjana E. Zerova; Nataliya G. Gorovenko; Albert Schinzel

Book ID: 116433014
Publisher: Elsevier Science
Year: 2007
Tongue: English
Weight: 296 KB
Volume: 50
Category: Article
ISSN: 1769-7212
DOI: 10.1016/j.ejmg.2006.10.008

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Diagnosis of chromosome 3 duplication q2

Diagnosis of chromosome 3 duplication q23→qter, deletion p25→pter in a patient with the C (trigonocephaly) syndrome

✍ Preus, Marilyn ;Vekemans, Michel ;Kaplan, Paige ;Reynolds, James F. 📂 Article 📅 1986 🏛 John Wiley and Sons 🌐 English ⚖ 552 KB

The cells of a deceased patient previously reported to have the C (trigonocephaly) syndrome were reinvestigated because his phenotype resembled that of a patient with a duplication-deficiency of chromosome 3. This diagnosis was confirmed using fibroblasts grown from frozen cells, and his mother was

Mosaicism del(22)(q11.2q11.2)/dup(22)(q1

Mosaicism del(22)(q11.2q11.2)/dup(22)(q11.2q11.2) in a patient with features of 22q11.2 deletion syndrome

✍ Melissa A. Dempsey; Stuart Schwartz; Darrel J. Waggoner 📂 Article 📅 2007 🏛 John Wiley and Sons 🌐 English ⚖ 172 KB 👁 1 views

Deletion of chromosome 15pter→q11.2 due

Deletion of chromosome 15pter→q11.2 due to t(Y;15) in a boy with Prader-Willi syndrome

✍ Qumsiyeh, Mazin B. ;Dalton, James D. ;Gordon, Patricia L. ;Wilroy, R. Sid ;Thara 📂 Article 📅 1992 🏛 John Wiley and Sons 🌐 English ⚖ 276 KB 👁 2 views

Tetralogy of Fallot with absent pulmonar

Tetralogy of Fallot with absent pulmonary valve in a de novo derivative chromosome 9 with duplication of 9p13 → 9pter and deletion of 9q34.3

✍ Montakarn Tansatit; Narisorn Kongruttanachok; Walaiwan Kongnak; Suparp Arunpan; 📂 Article 📅 2006 🏛 John Wiley and Sons 🌐 English ⚖ 270 KB 👁 3 views

A rare de novo duplication of chromosome

A rare de novo duplication of chromosome 21q22.12 → q22.3 with other concomitant deletion and duplication of small fragments in 21q associated with Down syndrome: Prenatal diagnosis, molecular cytogenetic characterization

✍ Qingwei Qi, Xiya Zhou, Yulin Jiang, Na Hao, Jing Zhou… 📂 Article 📅 2013 🏛 BioMed Central 🌐 English ⚖ 586 KB

Molecular cytogenetic characterization o

Molecular cytogenetic characterization of an interstitial deletion of chromosome 21 (21q22.13q22.3) in a patient with dysmorphic features, intellectual disability and severe generalized epilepsy

✍ Angelo Valetto; Alessandro Orsini; Veronica Bertini; Benedetta Toschi; Alice Bon 📂 Article 📅 2012 🏛 Elsevier Science 🌐 English ⚖ 624 KB