A Case of Miller-Dieker Syndrome without Characteristic Facial Anomaly.
- Author:
Sun Young KONG
1
;
Sung Hee HAN
;
Jung hee YANG
;
Eun jung KIM
;
Sun Hee KIM
;
Kae hyang LEE
;
Munhyang LEE
Author Information
1. Department of Laboratory Medicine, Sungkyunkwan University School of Medicine, Samsung Medical Center, Seoul, Korea. mhlee@smc.samsung.co.kr
- Publication Type:Case Report
- Keywords:
Fluorescence in situ hybridization;
Miller-Dieker syndrome;
Lissencephaly
- MeSH:
Adult;
Brain;
Classical Lissencephalies and Subcortical Band Heterotopias*;
Cytogenetic Analysis;
Diagnosis;
Female;
Fluorescence;
Genetic Counseling;
Humans;
In Situ Hybridization;
Karyotype;
Lissencephaly;
Magnetic Resonance Imaging;
Male;
Maryland;
Metaphase;
Microcephaly;
Parturition;
Pregnancy;
Prenatal Diagnosis;
Seizures;
Spasm
- From:The Korean Journal of Laboratory Medicine
2004;24(3):194-197
- CountryRepublic of Korea
- Language:Korean
-
Abstract:
Miller-Dieker syndrome is a multiple malformation syndrome characterized by severe lissencephaly and characteristic facial abnormalities at birth. It is associated with visible or submicroscopic deletions within chromosome 17p13.3 including PAFAH1B1 (LIS1) gene. We report a six-month-old boy who presented with spasm and generalized myoclonic seizures. The patient was born at 40 weeks' gestation to a 36-year-old woman and showed developmental delay without microcephaly or prominent facial abnormality. Magnetic resonance imaging of the brain showed a few gyrus (lissencephaly). High resolution cytogenetic analysis from peripheral blood showed a normal karyotype. However, fluorescence in situ hybridization (FISH) of the metaphase chromosome using Miller-Dieker/ILS probe (Oncor, Gaithersburg, Maryland, USA) revealed only one signal of probe, indicating a microdeletion of 17pl3.3 region including PAFAH1B1 (LIS1) gene. We suggest that FISH 17p13.3 studies should be performed in addition to a standard metaphase analysis in patients with lissencephaly even if facial anomaly is not noted. A confirmatory diagnosis using FISH would be helpful in terms of leading to allow genetic counseling and availability prenatal diagnosis to the family.
