Human Genetics Laboratory


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Lab Phone: 402-559-5070
Email: mmihgl@unmc.edu
Supplies: 402-559-5070

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Cytogenetics Laboratory
Zip 5440
UNMC Shipping & Receiving Dock
668 South 41 Street
Omaha, NE  68105

Newsletter

Human Genetics Lab Newsletter

Regions of the Genome Assayed by the Spectral Genomics Constitutional Chip

Selected Conditions Included

 Location

 Adrenal hypoplasia congenita

 Xp21

 Alagille

 20p11.23

 Angelman

 15q12

 Beckwith-Wiedemann

 11p15.5

 Charcot-Marie-Tooth Type 1A (CMT/A)

 17p12

 CHARGE

 8q12.1

 Cri-du-Chat

 5p15

 DiGeorge I

 22q11.2

 DiGeorge II

 10p13

 Down syndrome critical region

 21q22.1

 Duchenne muscular dystrophy

 Xp21.1

 Exostoses, multiple type I (EXTI)

 8q24.11

 Glycerol kinase deficiency

 Xp21

 Gonadal dysgenesis XY Type (SRY)

 Yp11.31

 Greig cephalopolysyndactyly

 7p13

 HDR syndrome

 10p14

 Holoprosencephaly 1

 21q22.3

 Kallmann

 Xp22.3

 Langer-Giedion

 8q24

 Microphthalmia with linear skin defects

 Xp22.3

 Miller-Dieker

 17p13.3

 Monosomy 1p36

 1p36

 Nebulette (NEBL)

 10p12.31

 Neurofibromatosis I

 17q11.2

 Pallister-Killian

 12p

 Pelizaeus-Merzbacher disease

 Xq21

 Polycystic kidney disease

 16p13.3

 Potocki-Shaffer

 11p11.2

 Prader-Willi

 15q12

 Retinoblastoma / MR

 13q14

 Rubinstein-Taybi

 16p13.3

 Saethre-Chotzen

 7p21

 Smith-Magenis

 17p11.2

 Sotos

 5q35

 Split foot - Split hand

 10q24.32

 Steroid sulfatase deficiency

 Xp22.3

 Trichorhinophalangeal syndrome

 8q23.3

 Tuberous sclerosis 2

 16p13.3

 TWIST

 7p21.1

 WAGR

 11p13

 Williams

 7p11.23

 Wilm's tumor (WTI)

 11p13

 Wolf-Hirschhorn

 4p16

 X-linked heterotaxy

 Xq26.2

 All 43 unique pericentromeric regions

 43 sites

 All 41 unique subtelomeric regions

 41 sites

*The Spectral Genomic Constitutional Array includes 606 cclones throughout the entire genome. thye 606 clones are 118 specific gene loci which, when deleted or duplicated, are known to be associated with clinical disease. There are also clinical regions not represented in this chip for which we have validated FISH probes. Please call the Human Genetics Lab if the specific region of interest is not included in the list above.

 

Revised 10/23/2007