✦ LIBER ✦

Molecular cytogenetic characterization of a recombinant chromosome rec(22)dup(22q)inv(22)(p13q12.2)

✍ Scribed by Tonk, Vijay S. ;Jesurun, C.A. ;Morgan, David L. ;Lockhart, Lillian H. ;Velagaleti, Gopalrao V.N.

Publisher: John Wiley and Sons
Year: 2003
Tongue: English
Weight: 199 KB
Volume: 124A
Category: Article
ISSN: 0148-7299
DOI: 10.1002/ajmg.a.20384

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Case report of rec(7)dup(7q)inv(7)(p22q2

Case report of rec(7)dup(7q)inv(7)(p22q22) and a review of the recombinants resulting from parental pericentric inversions on any chromosomes

✍ Ishii, Fumiyo; Fujita, Hiroko; Nagai, Akira; Ogihara, Tohru; Kim, Han-Suk; Okamo 📂 Article 📅 1997 🏛 John Wiley and Sons 🌐 English ⚖ 48 KB 👁 1 views

We report a rare case of duplication for 7q22 → 7qter and deletion for 7p22 → 7pter, resulting from a meiotic recombination of a paternal pericentric inversion, inv(7)(p22q22). The newborn boy had the 7q trisomy syndrome. In addition, the diagnosis of chondrodysplasia punctata was made from lumbar a

Molecular cytogenetic analysis and clini

Molecular cytogenetic analysis and clinical findings in a newborn with prenatally diagnosed rec(7)dup(7q)inv(7)(p22q31.3)pat

✍ Barbara K. Goodman; Kristyne Stone; Jomo M. Coddett; Colyn B. Cargile; Edith D. 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 301 KB 👁 2 views

We report prenatal and early postnatal findings in a newborn with a partial trisomy of chromosome 7 (7q31.3-qter), arising from meiotic recombination of a paternal pericentric inversion, inv(7)(p22q31.3). The inversion breakpoints were localized and the regions of duplication and deletion were defin

De novo tandem duplication of chromosome

De novo tandem duplication of chromosome segment 22q11-q12: Clinical, cytogenetic, and molecular characterization

✍ Lindsay, Elizabeth A. ;Shaffer, Lisa G. ;Carrozzo, Romeo ;Greenberg, Frank ;Bald 📂 Article 📅 1995 🏛 John Wiley and Sons 🌐 English ⚖ 446 KB 👁 1 views

We report on a case of duplication of the segment 22qll-12 due to a de novo duplication. Molecular cytogenetics studies demonstrated this to be a tandem duplication, flanked proximally by the marker D2224, a centromeric alpha satellite DNA repeat, and distally by D22S260, an anonymous DNA marker pro

Clinical, cytogenetic, and molecular cha

Clinical, cytogenetic, and molecular characterization of a patient with a de novo interstitial 22q12 duplication

✍ Gentile, M. ;Wuyts, W. ;Grittani, S. ;Di Carlo, A. ;Cariola, F. ;Verdyck, P. ;Ma 📂 Article 📅 2004 🏛 John Wiley and Sons 🌐 English ⚖ 192 KB 👁 2 views

Cytogenetic and molecular analysis of a

Cytogenetic and molecular analysis of a t(1;22)(p36;q11.2) in a rhabdoid tumor with a putative homozygous deletion of chromosome 22

✍ Christophe Rosty; Martine Peter; Jessica Zucman; Pierre Validire; Olivier Delatt 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 281 KB 👁 2 views

Malignant rhabdoid tumors are rare and aggressive neoplasms of childhood, occurring in the kidney or in various extrarenal locations. Most cytogenetic studies of these tumors have shown the frequent involvement of chromosome 22, including translocations and/or deletions, with a critical region for a

Clinical and molecular cytogenetic chara

Clinical and molecular cytogenetic characterization of four patients with unbalanced translocation der(1)t(1;22)(p36;q13)

✍ Marzena Gajecka; Reem Saadeh; Katherine L. Mackay; Caron D. Glotzbach; Krystyna 📂 Article 📅 2008 🏛 John Wiley and Sons 🌐 English ⚖ 314 KB 👁 2 views