A Case of Miller-Dieker Syndrome without Characteristic Facial Anomaly / 대한진단검사의학회지
The Korean Journal of Laboratory Medicine
;
: 194-197, 2004.
Article
in Korean
| WPRIM
| ID: wpr-122283
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.
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Prenatal Diagnosis
/
Seizures
/
Spasm
/
Brain
/
Magnetic Resonance Imaging
/
Maryland
/
In Situ Hybridization
/
Cytogenetic Analysis
/
Parturition
/
Diagnosis
Type of study:
Diagnostic study
Limits:
Adult
/
Female
/
Humans
/
Male
/
Pregnancy
Country/Region as subject:
North America
Language:
Korean
Journal:
The Korean Journal of Laboratory Medicine
Year:
2004
Type:
Article
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