Chee S.-Y.Guo J.-W.Huang C.-J.YIN-HSIU CHIENLee Y.-C.Feng W.-K.2020-12-242020-12-2420191424-8581https://www.scopus.com/inward/record.uri?eid=2-s2.0-85065616232&doi=10.1159%2f000499956&partnerID=40&md5=7714cfb2ac347c88c9737ff2f1c880cfhttps://scholars.lib.ntu.edu.tw/handle/123456789/531320Miller-Dieker syndrome (MDS; OMIM 247200) is a rare contiguous gene deletion syndrome associated with lissencephaly and characteristic facial dysmorphism. T-cell lymphopenia is an immunodeficiency disorder which can be early detected by newborn blood screening, and all live vaccines should be avoided. We report a 2.32-Mb microdeletion at chromosome 17p13.3p13.2 and T-cell lymphopenia in a 6-month-old male infant with MDS. This is, to our knowledge, the first description of these 2 conditions co-occurring in the same patient. ? 2019 S. Karger AG, Basel.17p deletion; Miller-Dieker syndrome; T-cell lymphopenia[SDGs]SDG3anticonvulsive agent; adolescent; agyria; Article; aspa gene; bhlha9 gene; case report; chromosome 17p; chromosome deletion; clinical article; cluh gene; corpus callosum; crk gene; cryptorchism; cytogenetics; dph1 gene; flow cytometry; gene; gene deletion; genetic association; hic1 gene; human; hydrocephalus; hypertelorism; intrauterine growth retardation; low birth weight; low set ear; lymphocytopenia; male; microcephaly; micrognathia; Miller Dieker syndrome; mir132 gene; mir212 gene; mir22 gene; mnt gene; muscle rigidity; myo1c gene; nuclear magnetic resonance imaging; opisthotonus; or1d2 gene; ovca2 gene; pafah1b1 gene; palpebral fissure; physiotherapy; pitpna gene; positive end expiratory pressure; priority journal; prpf8 gene; respiratory distress; rilp gene; rpa1 gene; rtn4rl1 gene; scarf1 gene; seizure; serpinf1 gene; sgsm2 gene; short nose; slc43a2 gene; smg6 gene; srr gene; T cell lymphopenia; trpv3 gene; tsr1 gene; tusc5 gene; wdr81 gene; ywhae gene; agyria; chromosome 17; comorbidity; fluorescence in situ hybridization; genetics; infant; lymphocytopenia; Chromosomes, Human, Pair 17; Classical Lissencephalies and Subcortical Band Heterotopias; Comorbidity; Humans; In Situ Hybridization, Fluorescence; Infant; Male; Sequence Deletion; T-Lymphocytopenia, Idiopathic CD4-Positivejournal article10.1159/000499956310301992-s2.0-85065616232