Mayo Test Catalog, (Sorted By Test Name) - Mayo Medical ...

DUP15
89365
F17HP
90170
subjects with Prader-Willi syndrome and type I and type II deletion and maternal disomy. Pediatrics 2004
Mar;113(3 pt 1):565-573 2. Varela MC, Kok F, Setian N, et al: Impact of molecular mechanisms,
including deletion size, on Prader-Willi syndrome phenotype: study of 75 patients. Clin Genet 2005
Jan;67(1):45-52 3. Chai JH, Locke DP, Greally JM, et al: Identification of four highly conserved genes
between breakpoint hotspots BP1 and BP2 of the Prader-Willi/Angelman syndromes deletion region that
have undergone evolutionary transposition mediated by flanking duplicons. Am J Hum Genet 2003
Oct;73(4):898-925
15q11.2 Duplication, FISH
Clinical Information: Cytogenetic abnormalities at the 15q11-q13 locus are reported in up to 4%
of patients with autism spectrum disorders. Duplications in this chromosome region can occur as an
interstitial tandem repeat or as a supernumerary isodicentric chromosome 15, leading to trisomy or
tetrasomy of genes at the 15q11-q13 locus. The majority of interstitial tandem repeats in this region are
not detectable by conventional chromosome analysis but can be identified by FISH. Supernumerary
chromosomes can often be identified by conventional chromosome analysis but their origin must be
confirmed by FISH analysis. Molecular analysis by multiplex ligation-dependent probe amplification
(MLPA) can also detect duplications of chromosome 15q, but FISH analysis is necessary to distinguish
between interstitial tandem duplication and a supernumerary marker. The phenotype associated with
these abnormalities depends largely on the amount of duplicated material, as well as parent of origin.
Small dicentric markers with little 15q material duplicated are often familial and result in a normal
phenotype. Larger dicentric 15 markers are usually new mutations and result in mild dysmorphic
features, mental retardation, and behavioral abnormalities consistent with autism. Interstitial tandem
duplications are associated with autistic spectrum disorders when maternally inherited, but paternally
inherited duplications are less likely to cause phenotypic effects.
Useful For: Detecting duplications of the 15q11.1-11.3 region in individuals with autistic spectrum
disorders As an adjunct to conventional chromosome analysis to confirm the origin of supernumerary
marker chromosomes suspected of being derived from chromosome 15 To help resolve molecular
MLPA analysis where 15q duplication is identified, but the structural origin of the duplication is
unknown
Interpretation: Specimens with a normal signal pattern in metaphase and interphase cells are
considered negative for this probe. Specimens with a FISH signal pattern indicating duplication of the
critical region (3 signals) will be reported as having a duplication of the region tested by this probe.
Reference Values:
An interpretative report will be provided.
Clinical References: 1. Mao R, Jalal SM, Snow K, et al: Characteristics of two cases with
dup(15)(q11.2-q12): one of maternal and one of paternal origin. Genet Med 2000;2:131-135 2. Thomas
JA, Johnson J, Peterson Kraai TL, et al: Genetic and clinical characterization of patients with an
interstitial duplication 15q11-q13, emphasizing behavioral phenotype and response to treatment. Am J
Med Genet 2003;119:111-120 3. Battaglia A: The inv dup(15) or idic(15) syndrome: a clinically
recognizable neurogenetic disorder. Brain Dev 2005;5:365-369 4. Muhle R, Trentacoste S, Rapin I: The
genetics of autism. Pediatrics 2004;113:472-486
17-Hydroxy Progesterone, Urine
Clinical Information: 17-Hydroxy Progesterone is a steroid derived primary from enzymatic
metabolism of Progesterone and 17-Hydroxy Pregnenolone. It is converted enzymatically to
Androstenedione and 11-Deoxycortisol. It is produced in both the gonads and adrenal glands. It is
excreted into the urine in conjugated and unconjugated forms of 17-Hydroxy Progesterone and as
Pregnanetriol. This assay measures the total of the conjugated and unconjugated forms. It is stimulated
by ACTH and suppressed by Dexamethasone. Levels of urine 17-Hydroxy Progesterone are greatly
increased in patients with Polycystic Ovarian Disease and Congenital Adrenal Hyperplasia and show
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