Rare Concurrence of Two Congenital Disorders: Miller-Dieker Syndrome and T-Cell Lymphopenia

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 avoide...

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Veröffentlicht in:	Cytogenetic and genome research 2019-01, Vol.157 (4), p.227-230
Hauptverfasser:	Chee, Siew-Yin, Guo, Jiun-Wen, Huang, Chi-Jung, Chien, Yin-Hsiu, Lee, Yu-Chin, Feng, Wen-Kan
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Sprache:	eng
Schlagworte:	Short Report
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container_title	Cytogenetic and genome research
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creator	Chee, Siew-Yin Guo, Jiun-Wen Huang, Chi-Jung Chien, Yin-Hsiu Lee, Yu-Chin Feng, Wen-Kan
description	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.
doi_str_mv	10.1159/000499956
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title	Rare Concurrence of Two Congenital Disorders: Miller-Dieker Syndrome and T-Cell Lymphopenia
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