FISH Analyses  


1. Microdeletion Syndromes  
 
Please send:
- at least 3 ml of heparinised (Na of Li) whole blood,
- or 10 to 20 ml of amniotic fluid,
- or at least 10 mg of chorionic villi.

Syndrome
OMIM
Target

ALAGILLE, AGS
» ARTERIOHEPATIC DYSPLASIA
20p12 deletion

ANGELMAN, AS
» HAPPY PUPPET SYNDROME
15q11 - q13 deletion
BECKWITH-WIEDEMANN, BWS
» EXOMPHALOS-MACROGLOSSIA-GIGANTISM SYNDROME
 11p15.1 - p15.2 duplication
CHARCOT-MARIE-TOOTH TYPE 1A, CMT1A
 17p11.2 duplication
CRI DU CHAT
» CAT CRY SYNDROME
 5p15.2 deletion
DIGEORGE, DGS
 10p13 - p14 deletion

DIGEORGE, DGS

 22q11.2 / 22q13 deletion
GONADAL DYSGENESIS
» XY FEMALE
» SWYER SYNDROME
» DELETION SEX-DETERMINING REGION Y, SRY
 Yp11.3 / Xp11.1-q11.1 deletion
ICHTHYOSIS DUE TO
STEROID SULFATASE DEFICIENCY
 Xp22.32 deletion
KALLMANN, KAL1
» HYPOGONADOTROPIC HYPOGONADISM AND ANOSMIA
 Xp22.3 / Xp11.1-q11.1 deletion

KALLMANN, KAL2
» HYPOGONADOTROPIC HYPOGONADISM AND ANOSMIA

 8p11.2 deletion
LANGER–GIEDION, LGS
» TRICHO RHINO PHALANGEAL SYNDROME TYPE 2, TRPS2
 8q24 deletion
MENTAL RETARDATION AND CONGENITAL HEART DEFECT
 600576 8p23.1 deletion
MENTAL RETARDATION   1p36 deletion
NEUROFIBROMATOSIS, TYPE 1, NF1
 17q11.2 deletion
MICROPHTHALMIA WITH LINEAR SKIN DEFECTS
» MIDAS SYNDROME		 309801 Xp22.3 deletion
MILLER-DIEKER, MDLS, MDS
» LISSENCEPHALY
 247200 17p13.3 deletion
PRADER - WILLI, PWS 176270 15q11 - q13 deletion
RUBINSTEIN-TAYBI, RSTS
» BROAD THUMB-HALLUX SYNDROME
 16p13.3 deletion

SHORT STATURE, SS

 Xpter - p22.32 deletion

SMITH-MAGENIS, SMS

 17p11.2 / 17p13.3 deletion
SOTOS
» CEREBRAL GIGANTISM
 5q35 deletion
TSC2 - PKD1 DELETION
   16p13.3 - p13.12 deletion
VELOCARDIOFACIAL, VCF
» SHPRINTZEN
» CATCH22
 22q11.2 / 22q13 deletion

WAGR
» WILMS TUMOR, WT1
» WILMS TUMOR-ANIRIDIA-GENITOURINARY ANOMALIES-MENTAL RETARDATION SYNDROME

 11p13 deletion
WILLIAMS-BEUREN, WBS
» WILLIAMS
7q11.23 / 7q31 deletion
WOLF-HIRSCHHORN, WHS
 4p16.1 / 4p11-q11 deletion
XX MALE
» TRANSLOCATION SEX-DETERMINING REGION Y, SRY
 Yp11.3 / Xp11.1-q11.1 translocation
     

M-FISH

   All Chromosomes
SUBTELOMERIC DELETIONS AND TRANSLOCATIONS
   All Telomeres


 

2. Constitutional Aneuploidies  
 
Please send:
- at least 3 ml of heparinised (Na of Li) whole blood,
- or 10 to 20 ml of amniotic fluid,
- or at least 10 mg of chorionic villi.

 
Syndrome Chromosome

EDWARDS SYNDROME
» TRISOMY 18

 18
DOWN SYNDROME
» TRISOMY 21
 21
PATAU SYNDROME
» TRISOMY 13
 13
SEX-CHROMOSOME ANEUPLOIDIES X / Y

ANEUPLOIDY ASSAY

13, 18, 21, X / Y
 

 

3. Leukemias and Lymphomas  
 
Please send:
- at least 3 ml of bone marrow in Na or Li heparine vacutainers containing sterile transport medium (RPMI plus 10% FCS),
- or at least 5 mg of biopsy in a sterile recipient with transport medium (RPMI plus 10% FCS),
- or freshly made, unfixed bone marrow smears,
- or touch slides (for lymphomas, only briefly touch the slide on at least 3 areas, adherent cell clumps should be hardly visible by the eye).

 

3.a Deletions  

 
Disease Deletion
MYELODYSPLASTIC SYNDROME, MDS -5 / 5q31
MYELODYSPLASTIC SYNDROME, MDS -7 / 7q31
B-CELL CHRONIC LYMPHATIC LEUKEMIA, B-CLL 11q, 13q14.3, 17p13.3
 

 

3.b Aneuploidies  

 
Disease Aneuploidy
B-CELL CHRONIC LYMPHATIC LEUKEMIA, B-CLL 12
MYELOPROLIFERATIVE DISEASE, MPD
 X / Y
 

 

3.c Translocations  

 
Disease Chromosome Gene
ACUTE LYMPHATIC LEUKEMIA, ALL t(1;19) E2A / PBX1
ACUTE MYELOID LEUKEMIA , AML t(8;21) ETO / AML1
ACUTE MYELOID LEUKEMIA, AML t(10;11) AF10
ACUTE MYELOID LEUKEMIA , AML t(12;21) TEL / AML1
ACUTE MYELOID LEUKEMIA, AML
ACUTE LYMPHATIC LEUKEMIA, ALL
 t( ? ;11) MLL
ACUTE MYELOID LEUKEMIA, AML - M3 t(15;17) PML / RARA
ACUTE MYELOID LEUKEMIA, AML - M3   RARA break apart
ACUTE MYELOID LEUKEMIA, AML - M4 inv(16)
t(16;16)
 CBFB
BURKIT LYMPHOMA, BL t(8;14) IGH / MYC
CHRONIC MYELOID LEUKEMIA, CML
ACUTE LYMPHATIC LEUKEMIA, ALL
t(9;22) BCR / ABL
FOLLICULAR LYMPHOMA , FL t(14;18) IgH / BCL2
NON HODGKIN LYMPHOMA , NHL t(2;5) or variants ALK
NON HODGKIN LYMPHOMA , NHL   IgH break apart
NON HODGKIN LYMPHOMA , NHL 3q27 BCL6
NON HODGKIN LYMPHOMA , NHL t(9;14) PAX5 / IGH
MYELODYSPLASTIC SYNDROME, MDS
ACUTE MYELOID LEUKEMIA, AML
 3q26 EVI1
MALT LYMPHOMA t(11;18)
t(14;18)
 MALT1
MANTLE CELL LYMPHOMA , MCL
MULTIPLE MYELOMA , MM
 t(11;14) IgH / CCND1
MULTIPLE MYELOMA t(14;16) IgH / MAF
 

 

3.d Amplifications  

 
Disease Chromosome Gene
HODGKIN LYMPHOMA 2p13 - p12 REL
 

 

4. Solid Tumors  
 
Please send :
- 5-10 mg of tumor biopsy in a sterile recipient with transport medium (RPMI plus 10% FCS)
- or freshly made touch slides (only briefly touch the slide on at least 3 areas, adherent cell clumps should be hardly visible by the eye).

 

4.a Deletions  

 
Disease Deletion
RENAL CELL CARCINOMA NEUROBLASTOMA
 3p25
RENAL CELL CARCINOMA PHEOCHROMOCYTOMA NEUROBLASTOMA
 1p36
WILMS TUMOR 11p13
NEUROBLASTOMA 11q13
 

 

4.b Gains  

 
Disease Aneuploidy
NEUROBLASTOMA 17q23 - qter
 

 

4.c Translocations  

 
Disease Chromosome Gene
ALVEOLAR RHABDOMYOSARCOMA t(2;13)
t(1;13)
PAX / FKHR
MYXOID LIPOSARCOMA t(12;16) FUS / CHOP
CONGENITAL FIBROSARCOMA t(12;15) ETV6 / NTRK3
EXTRASKELETAAL MYXOID CHONDROSARCOMA t(9;22) EWS / CHN
EWING SARCOMA DESMOPLASTIC ROUND CELL TUMOR
 t(22,?) EWSR1
SYNOVIAL SARCOMA t(X;18) SYT/SSX
LIPOMA LEIOMYOMA
 12q HMGIC
TERATOMA GERM CELL TUMOR
 Iso(12p)  
 

 

4.d Amplifications  

 
Disease Chromosome Gene
NEUROBLASTOMA 2p24 MYCN
MEDULLOBLASTOMA 7p EGFR
 

 



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