A Case of Pallister–Killian Syndrome in a Newborn
Giulia Di Donato, Chiara Cauzzo, Paola Cicioni, Teresa Topazio, Valentina Chiavaroli, Chiara Palka Bayard De Volo, Elisena Morizio, Francesco Chiarelli, Susanna Di Valerio · 2026
Read A Case of Pallister–Killian Syndrome in a Newborn by Giulia Di Donato, Chiara Cauzzo, Paola Cicioni, Teresa Topazio, Valentina Chiavaroli, Chiara Palka Bayard De Volo, Elisena Morizio, Francesco Chiarelli, Susanna Di Valerio (2026) in the Tower of Babel, a free online library of public-domain works preserved in clean, searchable text. No sign-up. The full text is served as a plain-text file at a predictable URL, where text is present: https://antarctic-labs.com/tower-of-babel/pmc-13240379.txt.
Description
Giulia Di Donato and colleagues present a newborn later diagnosed with a rare mosaic chromosome disorder in a 2026 case report. Pallister-Killian syndrome arises when some cells carry an extra copy of part of chromosome twelve, producing a recognisable pattern of features that varies widely between children.
Typical signs include a coarse face, wide-set eyes, sparse hair at the temples, and patchy skin colouring that mirrors the patchwork genetics. Seizures, heart defects, and developmental delay may accompany the pattern. Because the share of affected cells does not predict severity, the authors stress careful physical examination to trigger testing early. A blood-based chromosome array test proved a sensitive way to confirm the diagnosis.
Catalog record
| CREATOR | Giulia Di Donato, Chiara Cauzzo, Paola Cicioni, Teresa Topazio, Valentina Chiavaroli, Chiara Palka Bayard De Volo, Elisena Morizio, Francesco Chiarelli, Susanna Di Valerio |
|---|---|
| YEAR | 2026 |
| COLLECTION | PAPERS |
| FORMAT | TXT |
| FILE SIZE | 17 KB |
| VERSION | 1.0 |
| LICENSE | CC BY 4.0 |
| RIGHTS | CC BY |
| SOURCE | Europe PMC |