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8696
HBL
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deletions in 13q14 detectable by fluorescence in situ hybridization in B-cell chronic lymphocytic
leukemia. Cancer Genet Cytogenet 2006 Apr 15;166(2):152-156 3. Jahrsdorfer B, Muhlenhoff L,
Blackwell SE, et al: B-cell lymphomas differ in their respectiveness to CpG oligodeoxynucleotides. Clin
Cancer Res 2005 Feb 15;11(4):1490-1499 4. Dicker F, Schnittger S, Haferlach T, et al:
Immunostimulatory oligodeoxynucleotide-induced metaphase cytogenetics detect chromosomal
aberrations in 80% of CLL patients: a study of 132 CLL cases with correlation to FISH, IgVH status, and
CD38 expression. Blood 2006 Nov 1;108(9):3152-3160 5. Blum KA, Wei L, Jones JA, et al: Activity of
combined Flavopiridol and Lenalidomide in patients with cytogenetically high risk chronic lymphocytic
leukemia (CLL): Updated results of a Phase I trial. Blood (ASH annual meeting abstracts), Nov
2011;118:3910 6. Rigolin GM, Cibien F, Martinelli S, et al: Chromosome aberrations detected by
conventional karyotyping using novel mitogens in chronic lymphocytic leukemia with "normal" FISH:
correlations with clinicobiological parameters. Blood, in press, 2012
Chromosome Analysis, for Congenital Disorders, Blood
Clinical Information: Chromosome abnormalities cause a wide range of disorders associated with
birth defects and congenital diseases. Congenital chromosome studies are done on blood for a wide
variety of indications including mental retardation, failure to thrive, possible Down syndrome, delayed
puberty or primary amenorrhea (Turner syndrome), frequent miscarriages, infertility, multiple congenital
anomalies, sex determination, and many others. An array comparative genomic hybridization (aCGH)
study (CGH/88898 Array Comparative Genomic Hybridization [aCGH], Whole Genome, Constitutional)
is recommended as the first-tier test (rather than a congenital chromosome study) to detect clinically
relevant gains or losses of chromosomal material for individuals with multiple anomalies not specific to
well-delineated genetic syndromes, individuals with apparently nonsyndromic developmental delay or
intellectual disability, and individuals with autism spectrum disorders.
Useful For: Diagnosis of a wide variety of congenital conditions Identification of congenital
chromosome abnormalities, including aneuploidy (ie, trisomy or monosomy) and structural abnormalities
Interpretation: When interpreting results, the following factors need to be considered: -Some
chromosome abnormalities are balanced (no apparent gain or loss of genetic material) and may not be
associated with birth defects. However, balanced abnormalities often cause infertility and, when inherited
in an unbalanced fashion, may result in birth defects in the offspring. -A normal karyotype (46,XX or
46,XY with no apparent chromosome abnormality) does not eliminate the possibility of birth defects such
as those caused by submicroscopic cytogenetic abnormalities, molecular mutations, and environmental
factors (ie, teratogen exposure). It is recommended that a qualified professional in Medical Genetics
communicate all abnormal results to the patient.
Reference Values:
46,XX or 46,XY. No apparent chromosome abnormality.
An interpretive report will be provided.
Clinical References: 1. Manning M, Hudgins L: Professional Practice and Guidelines Committee.
Array-based technology and recommendations for utilization in medical genetics practice for detection of
chromosomal abnormalities. Genet Med 2010;12(11):742-745 2. Dewald GW: Modern methods of
chromosome analysis and their application in clinical practice. In Clinical Laboratory Annual. Vol 2.
Edited by HA Homburger, JG Batsakis. Appleton-Century-Crofts, 1983, pp 1-29 3. Barch MJ, Knutsen T,
Spurbeck JL: The AGT Cytogenetics Laboratory Manual. Third edition. 1997
Chromosome Analysis, Hematologic Disorders, Blood
Clinical Information: Chromosomal abnormalities play a central role in the pathogenesis, diagnosis,
and monitoring of treatment of many hematologic disorders. Whenever possible, it is best to do
chromosome studies for neoplastic hematologic disorders on bone marrow. Bone marrow studies are more
sensitive and the chances of finding metaphases are about 95%, compared with only a 60% chance for
blood studies. When it is not possible to collect bone marrow, chromosome studies on blood may be
useful. When blood cells are cultured in a medium without mitogens, the observation of any
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