Unusual Trisomy X Phenotype Associated with a Concurrent Heterozygous 16p11.2 Deletion: Importance of an Integral Approach for Proper Diagnosis

Unusual Trisomy X Phenotype Associated with a Concurrent Heterozygous 16p11.2 Deletion: Importance of an Integral Approach for Proper Diagnosis

Trisomy X is the most frequent sex chromosome anomaly in women, but it is often underdiagnosed postnatally because most patients do not show any clinical manifestation. It is estimated that only 10% of patients with trisomy X are diagnosed by clinical findings. Thus, it has been proposed that the cl...

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Bibliographic Details
Main Authors: Ariadna González-del Angel, Miguel Angel Alcántara-Ortigoza, Sandra Ramos, Carolina Algara-Ramírez, Marco Antonio Hernández-Hernández, Lorenza Saenger-Rivas
Format: Article
Language:English
Published: MDPI AG 2023-09-01
Series:International Journal of Molecular Sciences
Subjects:
trisomy X
unusual phenotype
distal 16p11.2 chromosome deletion
copy-number variant
sex chromosome aneuploidy
autosomal recessive diseases
Online Access:https://www.mdpi.com/1422-0067/24/19/14643

Internet

https://www.mdpi.com/1422-0067/24/19/14643

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