Genetics Corner: An infant with a CHARGE-like syndrome and dual diagnoses: Xq28 duplication and Exon 38/39 KMT2D Missense Variant syndrome.

Autor:	Louzy, Enas Hanna, Clark, Robin Dawn
Předmět:	ECHOCARDIOGRAPHY GENETIC testing DIFFERENTIAL diagnosis MAGNETIC resonance imaging SEVERE combined immunodeficiency MULTIPLE human abnormalities TREATMENT effectiveness X-linked intellectual disabilities CARDIAC arrest APGAR score DISEASE complications
Zdroj:	Neonatology Today; Nov2023, Vol. 18 Issue 11, p159-162, 4p
Abstrakt:	The article presents a case study of an eight-day-old infant with a CHARGE-like syndrome, emphasizing the challenges in diagnosing complex genetic disorders. Topics discussed include the dual diagnoses of Xq28 duplication and Exon 38/39 KMT2D missense variant syndrome, the importance of recognizing rare combinations of anomalies, and the potential role of whole genome sequencing in revealing multiple genetic disorders in neonates.
Databáze:	Complementary Index
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