Terminal deletion of the long arm of chromosome 2 in a mildly dysmorphic hypotonic infant with karyotype 46,XY,del(2)(q37)
Author:
Publisher
Wiley
Subject
Genetics(clinical)
Reference14 articles.
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1. Novel 4.18 Mb deletion resulting in 2q37 microdeletion syndrome combined with PTH resistance found in one Chinese patient;Endocrine;2024-02-23
2. Neonatal and infantile hypotonia;Motor System Disorders, Part I: Normal Physiology and Function and Neuromuscular Disorders;2023
3. Genotype and phenotype correlation in 103 individuals with 2q37 deletion syndrome reveals incomplete penetrance and supports HDAC4 as the primary genetic contributor;American Journal of Medical Genetics Part A;2019-03-07
4. 2q37 Deletion syndrome confirmed by high-resolution cytogenetic analysis;Annals of Pediatric Endocrinology & Metabolism;2017
5. Deletion 2q37 syndrome: Cognitive-behavioral trajectories and autistic features related to breakpoint and deletion size;American Journal of Medical Genetics Part A;2016-06-09
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