✦ LIBER ✦

Pallister-Killian syndrome—an update of a clinical case

✍ Scribed by Wyatt, Philip R. ;Reynolds, James F.

Publisher: John Wiley and Sons
Year: 1988
Tongue: English
Weight: 67 KB
Volume: 29
Category: Article
ISSN: 0148-7299
DOI: 10.1002/ajmg.1320290133

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Case of Pallister-Killian syndrome with

Case of Pallister-Killian syndrome with imperforate anus

✍ Lin, Angela E. ;Clemens, Michele ;Garver, Kenneth L. ;Wenger, Sharon L. ;Steele, 📂 Article 📅 1988 🏛 John Wiley and Sons 🌐 English ⚖ 154 KB 👁 2 views

Clinical overlap of OFD type IX with Pal

Clinical overlap of OFD type IX with Pallister–Killian syndrome (tetrasomy 12p)

✍ D. Geneviève; Y. Sznajer; M. Raoul; D. Sanlaville; A. Verloes; M.F. Portnoï; C. 📂 Article 📅 2003 🏛 John Wiley and Sons 🌐 English ⚖ 105 KB

Clinical, cytogenetic, and molecular obs

Clinical, cytogenetic, and molecular observations in a patient with Pallister-Killian-syndrome with an unusual karyotype

✍ Leube, Barbara ;Majewski, Frank ;Gebauer, J�rgen ;Royer-Pokora, Brigitte 📂 Article 📅 2003 🏛 John Wiley and Sons 🌐 English ⚖ 161 KB 👁 2 views

Assisted reproductive technology and con

Assisted reproductive technology and congenital overgrowth: Some speculations on a case of Pallister-Killian syndrome

✍ Chiurazzi, P. ;Bajer, J. ;Tabolacci, E. ;Pomponi, M.G. ;Lecce, R. ;Zollino, M. ; 📂 Article 📅 2004 🏛 John Wiley and Sons 🌐 English ⚖ 47 KB 👁 1 views

THE USE OF INTERPHASE FISH FOR PRENATAL

THE USE OF INTERPHASE FISH FOR PRENATAL DIAGNOSIS OF PALLISTER–KILLIAN SYNDROME

✍ PATRICIA A. MOWERY-RUSHTON; MONA P. STADLER; SALLY J. KOCHMAR; ELIZABETH McPHERS 📂 Article 📅 1997 🏛 John Wiley and Sons 🌐 English ⚖ 221 KB 👁 2 views

Pallister-Killian syndrome (tetrasomy 12p) is a relatively rare aneuploidy syndrome characterized by the presence of mosaicism for an isochromosome 12p [i(12p)]. We report two new cases diagnosed following chorionic villus sampling and an abnormal ultrasound, respectively. Fluorescent in situ hybrid

aCGH detects partial tetrasomy of 12p in

aCGH detects partial tetrasomy of 12p in blood from Pallister–Killian syndrome cases without invasive skin biopsy

✍ Aaron Theisen; Jill A. Rosenfeld; Sandra A. Farrell; Catharine J. Harris; Heathe 📂 Article 📅 2009 🏛 John Wiley and Sons 🌐 English ⚖ 146 KB 👁 1 views