Mild phenotype in two unrelated patients with a partial deletion of 21q22.2-q22.3 defined by FISH and molecular studies
Author:
Publisher
Wiley
Subject
Genetics(clinical)
Reference25 articles.
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3. "Compensatory" uniparental disomy of chromosome 21 in two cases.
4. Proximal deletion of chromosome 21 confirmed by in situ hybridization and molecular studies
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1. Mimicking Hypoxic-Ischemic Encephalopathy in a Newborn with 21q Deletion Originating from Ring Chromosome 21;Children;2023-08-27
2. Homozygous deletion of 21q22.2 in a patient with hypotonia, developmental delay, cortical visual impairment, and retinopathy;American Journal of Medical Genetics Part A;2020-11-10
3. Cushing's disease associated with 21q22.3 deletion syndrome;Journal of Paediatrics and Child Health;2020-08-30
4. Alopecia, deformed ear and mental retardation associated with terminal 21q deletion;ANN DERMATOL VENER;2019
5. Alopécie, dysplasie auriculaire et déficit intellectuel en lien avec une délétion 21q terminale;Annales de Dermatologie et de Vénéréologie;2019-09
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