Interstitial 1q Deletion Syndrome: A New Patient with Congenital Diaphragmatic Hernia and Multiple Midline Anomalies
The few subjects suffering such rearrangement reported to date, along with the clinical and genetic profile of the present newborn, show that 1q deletions should be considered within the context of the "interstitial 1q deletion syndrome". Comparing our case with those described in previous studies, the involved genomic regions and the phenotypic traits are partially overlapping, although the clinical picture of the present patient is among the few ones including a congenital diaphragmatic hernia within the phenotypical spectrum. A more extensive comparative analysis of a larger number of patients with similar genetic profiles may allow for a more precise clinical and genomic characterization of this rare syndrome, and for genotype-phenotype correlations.
Authors
- Rosaria Nardello (ORCID: https://orcid.org/0000-0002-1041-6910)
- Giovanni Corsello (ORCID: https://orcid.org/0000-0002-0218-8110)
- Maria Sergio (ORCID: https://orcid.org/0000-0003-2433-6281)
- Maria Rita Di Pace (ORCID: https://orcid.org/0000-0003-2170-8035)
- Gregorio Serra (ORCID: https://orcid.org/0000-0002-2918-9826)
- Marco Pensabene (ORCID: https://orcid.org/0000-0003-3187-1901)
- Ettore Piro (ORCID: https://orcid.org/0000-0003-4727-1628)
- Gabriele Valenti
- Vincenzo Antona (ORCID: https://orcid.org/0000-0001-7643-9560)
- Ingrid Anne Mandy Schierz (ORCID: https://orcid.org/0000-0001-7444-4948)
- Mario Giuffrè (ORCID: https://orcid.org/0000-0001-9576-1635)
- Alessandra Giliberti
- Daniela Mariarosa Morreale
Institutions
- University of Palermo (IT)
Publication Details
- Journal
- Genes
- Published
- 2025-03-07
- DOI
- https://doi.org/10.3390/genes16030319
- Primary Topic
- Genomic variations and chromosomal abnormalities
- Type
- article
- Field-Weighted Citation Impact
- 0.00