title: Myelodysplastic syndrome in a child with 15q24 deletion syndrome.
abstract: 15q24 deletion syndrome is a recently-described chromosomal disorder, characterized by developmental delay, growth deficiency, distinct facial features, digital abnormalities, loose connective tissue, and genital malformations in males. To date, 19 patients have been reported. We report on a 13-year-old boy with this syndrome manifesting childhood myelodysplastic syndrome (MDS). He had characteristic facial features, hypospadias, and mild developmental delay. He showed neutropenia and thrombocytopenia for several years. At age 13 years, bone marrow examination was performed, which showed a sign suggestive of childhood MDS: mild dysplasia in the myeloid, erythroid, and megakaryocytic cell lineages. Array comparative genomic hybridization (array CGH) revealed a de novo 3.4 Mb 15q24.1q24.3 deletion. Although MDS has not been described in patients with the syndrome, a boy was reported to have acute lymphoblastic leukemia (ALL). The development of MDS and hematological malignancy in the syndrome might be caused by the haploinsufficiency of deleted 15q24 segment either alone or in combination with other genetic abnormalities in hematopoietic cells. Further hematological investigation is recommended to be beneficial if physical and hematological examination results are suggestive of hematopoietic disturbance in patients with the syndrome.
authors.affiliation: Department of Medical Genetics, Shinshu University School of Medicine, Matsumoto, Japan. ynarumi@shinshu-u.ac.jp
authors.forename: Yoko
authors.initials: Y
authors.lastname: Narumi
authors.forename: Masaaki
authors.initials: M
authors.lastname: Shiohara
authors.forename: Keiko
authors.initials: K
authors.lastname: Wakui
authors.forename: Asahito
authors.initials: A
authors.lastname: Hama
authors.forename: Seiji
authors.initials: S
authors.lastname: Kojima
authors.forename: Kentaro
authors.initials: K
authors.lastname: Yoshikawa
authors.forename: Yoshiro
authors.initials: Y
authors.lastname: Amano
authors.forename: Tomoki
authors.initials: T
authors.lastname: Kosho
authors.forename: Yoshimitsu
authors.initials: Y
authors.lastname: Fukushima
mesh_terms: D000293:Adolescent; D002872:Chromosome Deletion; D002884:Chromosomes, Human, Pair 15; D055028:Comparative Genomic Hybridization; D002658:Developmental Disabilities / Q000235:genetics / Q000473:pathology; D006801:Humans; D007021:Hypospadias / Q000175:diagnosis / Q000473:pathology; D017404:In Situ Hybridization, Fluorescence; D008214:Lymphocytes / Q000166:cytology; D008297:Male; D009190:Myelodysplastic Syndromes / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology*; D009503:Neutropenia / Q000175:diagnosis / Q000473:pathology; D013921:Thrombocytopenia / Q000175:diagnosis / Q000473:pathology