![](/f/f/edb99351d8b637542eaefa34ca48e89b.jpg)
Bieżący numer
Archiwum
Artykuły zaakceptowane
O czasopiśmie
Rada naukowa
Bazy indeksacyjne
Kontakt
Zasady publikacji prac
Standardy etyczne i procedury
Panel Redakcyjny
Zgłaszanie i recenzowanie prac online
|
2/2024
vol. 99 streszczenie artykułu:
Opis przypadku
MYT1L mutation in a patient with severe early-onset obesity and intellectual disability
André Costa e Silva
1
,
Inês Maio
1
,
Cecília Martins
1
,
Sara Pires
1
,
Cláudia Gonçalves
1
Pediatr Pol 2024; 99 (2): 164-166
Data publikacji online: 2024/06/21
Pełna treść artykułu
Pobierz cytowanie
ENW EndNote
BIB JabRef, Mendeley
RIS Papers, Reference Manager, RefWorks, Zotero
AMA
APA
Chicago
Harvard
MLA
Vancouver
Children suffering from intellectual disability, dysmorphic features and organ-specific developmental abnormalities should undergo genetic testing. Entities such as X fragile syndrome should be investigated. If we add obesity to the “equation”, Prader-Willi and Bardet-Biedl are thus far the most common syndromic conditions to be found. The evolution of genetic testing brought several other genetic determinants of developmental delay. We report on a 4-year-old girl presenting with obesity and delayed neurological, cognitive and motor development whose genetic testing by array-based comparative genomic hybridization exposed a partial deletion at chromosome 2p25.3, containing the gene MYT1L. |