A Rare Case of Concurrent 2q34q36 Duplication and 2q37 Deletion in a Neonate with Syndromic Features
Francesco Nicola Riviello, Alessia Daponte, Emanuela Ponzi, Romina Ficarella, Paola Orsini, Roberta Bucci, Mario Ventura, Francesca Antonacci, Claudia Rita Catacchio, Mattia Gentile, Miles D Thompson, Arnold Munnich · 2023
Read A Rare Case of Concurrent 2q34q36 Duplication and 2q37 Deletion in a Neonate with Syndromic Features by Francesco Nicola Riviello, Alessia Daponte, Emanuela Ponzi, Romina Ficarella, Paola Orsini, Roberta Bucci, Mario Ventura, Francesca Antonacci, Claudia Rita Catacchio, Mattia Gentile, Miles D Thompson, Arnold Munnich (2023) 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-10742419.txt.
Description
Francesco Riviello and co-authors report a newborn with two rare chromosome changes at once in 2023, using team framing since the head byline is shorter than the catalog list. One change deletes the tip of chromosome 2. That loss is a known syndrome with short height, facial traits, and autism linked signs. The other change copies a nearby stretch of the same chromosome.
The baby was fifteen days old and had syndromic traits. Tests found a large deletion at the tip and a like sized copy in the middle region. The team compares the case with past reports. They weigh how each change may shape the child's traits. They also probe how such a paired rearrangement could arise.
Catalog record
| CREATOR | Francesco Nicola Riviello, Alessia Daponte, Emanuela Ponzi, Romina Ficarella, Paola Orsini, Roberta Bucci, Mario Ventura, Francesca Antonacci, Claudia Rita Catacchio, Mattia Gentile, Miles D Thompson, Arnold Munnich |
|---|---|
| YEAR | 2023 |
| COLLECTION | PAPERS |
| FORMAT | TXT |
| FILE SIZE | 26 KB |
| VERSION | 1.0 |
| LICENSE | CC BY 4.0 |
| RIGHTS | CC BY |
| SOURCE | Europe PMC |