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FMDL
88533
FMNCY
90060
IHCO
29004
Clinical References: Homburger HA: Allergic diseases. In Clinical Diagnosis and Management by
Laboratory Methods. 21st edition. Edited by McPherson RA, Pincus MR. WB Saunders, Publ, New York,
Chapter 53, Part VI, pp. 961-971, 2007
Miller-Dieker Syndrome, 17p13.3 Deletion, FISH
Clinical Information: Miller-Dieker syndrome is associated with a deletion on the short arm of
chromosome 17. The syndrome can be suspected in patients with microcephaly and a prominent forehead
with vertical skin furrowing and bitemporal narrowing. The phenotype includes type I lissencephaly
(cerebral agyria or smooth brain with a 4-layer cortex), profound electroencephalogram (EEG)
abnormality, seizures, hypotonia, severe-to-profound mental retardation, and pre- and postnatal growth
retardation. Facial features include ptosis (droopy eyelid), upturned nares, long philtrum (vertical groove
on the midline of the upper lip) with thin upper lip, mild micrognathia (small jaw), and malformed ears.
Heart and kidney defects are common. Most patients die in infancy. High-resolution chromosome studies
(CMS/8696 Chromosome Analysis, for Congenital Disorders, Blood) are recommended for patients
suspected of having Miller-Dieker syndrome to detect the deletion and to rule out other chromosome
abnormalities or translocations. FISH studies are also recommended to detect cryptic translocations
involving 17p13.3 that are not demonstrated by conventional chromosome studies.
Useful For: Aids in the diagnosis of 17p13.3 deletion (Miller-Dieker syndrome or type I
lissencephaly), in conjunction with high-resolution chromosome studies (CMS/8696 Chromosome
Analysis, for Congenital Disorders, Blood)
Interpretation: Any individual with a normal signal pattern (2 signals) in each metaphase is
considered negative for a deletion in the region tested by this probe. Any patient with a FISH signal
pattern indicating loss of the critical region will be reported as having a deletion of the regions tested by
this probe. This is consistent with a diagnosis of 17p13.3 deletion (Miller-Dieker syndrome or type 1
lissencephaly).
Reference Values:
An interpretive report will be provided.
Clinical References: 1. Van Dyke DL, Wiktor A: Clinical cytogenetics. In Laboratory Medicine.
2nd edition. Chapter 26. Edited by K McClatchey. Baltimore, Williams & Wilkins, 2002 2. Jones K:
Miller-Dieker syndrome (Lissencephaly syndrome). In Smith's Recognizable Patterns of Human
Malformation. 5th edition. Philadelphia, WB Saunders Company, 1997 3. Cardoso C, Leventer RJ, Ward
HL, et al: Refinement of a 400 kb critical region allows genotypic differentiation between isolated
lissencephaly, Miller-Dieker syndrome, and other phenotypes secondary to deletions of 17p13.3. Am J
Hum Genet 2003;72:918-930
Minocycline Level, BA
Reference Values:
Single dose peak (1-4 hrs): 100 mg: 2.1 - 5.1 mcg/mL
Mean Steady State
135 mg/day: 2.9 mcg/mL
Any undisclosed antimicrobials might affect the results.
Test Performed By: Focus Diagnostics, Inc.
5785 Corporate Avenue
Cypress, CA 90630-4750
Mismatch Repair (MMR) Protein Immunohistochemistry Only,
Tumor
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