https://scholars.lib.ntu.edu.tw/handle/123456789/531320
Title: | Rare Concurrence of Two Congenital Disorders: Miller-Dieker Syndrome and T-Cell Lymphopenia | Authors: | Chee S.-Y. Guo J.-W. Huang C.-J. YIN-HSIU CHIEN Lee Y.-C. Feng W.-K. |
Keywords: | 17p deletion; Miller-Dieker syndrome; T-cell lymphopenia | Issue Date: | 2019 | Publisher: | S. Karger AG | Journal Volume: | 157 | Journal Issue: | 4 | Start page/Pages: | 227-230 | Source: | Cytogenetic and Genome Research | Abstract: | Miller-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. |
URI: | https://www.scopus.com/inward/record.uri?eid=2-s2.0-85065616232&doi=10.1159%2f000499956&partnerID=40&md5=7714cfb2ac347c88c9737ff2f1c880cf https://scholars.lib.ntu.edu.tw/handle/123456789/531320 |
ISSN: | 1424-8581 | DOI: | 10.1159/000499956 | SDG/Keyword: | anticonvulsive 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-Positive |
Appears in Collections: | 醫學系 |
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