A case of ADH5/ALDH2 deficiency combined with 3q29 microduplication syndrome.

ABSTRACT: A case of ADH5/ALDH2 deficiency combined with 3q29 microduplication syndrome in the Department of Hematology, Beijing Children's hospital was retrospectively analyzed. The child, a 3-year-old girl, had a history of recurrent cutaneous petechias, and multiple episodes of pancytopenia. She was examined for café au lait spots, growth retardation, and microcephaly. Fanconi anemia (FA) was highly suspected according to the clinical manifestations and laboratory tests of the child, and was diagnosed as Amed syndrome combined with 3q29 microduplication syndrome according to the genetic results. Amed syndrome is an autosomal recessive multisystem disorder characterized by global developmental delay, impaired intellectual development, bone marrow failure and myelodysplastic syndrome (MDS) in childh

SUBMITTER: Chenzhuo S 

PROVIDER: S-EPMC12492562 | biostudies-literature | 2025 Oct

REPOSITORIES: biostudies-literature