Key locus service FISH probes

Reference

Syndrome

Gene

Cytogenetic Location

PubMed ID :

1632008
8824878

Holoprosencephaly2

SIX3

2p21

PubMed ID : 9361039

Nephronophthisis

NPHP1

2q13

PubMed ID: 9719364

Mowat-Wilson

ZFHX1B

2q22.3

PubMed ID: 7847374

Albright Hereditary Osteodystrophy

AHO

2q37

PubMed ID: 11778160

Synpolydactyly

HOXD9
HOXD13
EVX2

2q31-32

PubMed ID : 11343300

Holoprosencephaly 6

(2q37.1-2q37.3)

PubMed ID: 10554035

Von Hippel-Lindau syndrome

VHL

3p23

PubMed ID: 11468277

Blepharophimosis-ptosis-epicanthus inversions (BPES)

FOXL2

3q23

PubMed ID: 12461687

Anopthalmia, hearing loss, and brain anomalies

SOX2

3q26.3-q27

PubMed ID: 1388934

Rieger syndrome

PIX2

4q25

PubMed ID: 16086407

Cornelia de Lange syndrome*

NIPBL

5q13.2

PubMed ID: 8064829

Familial adenomatous polyposis

APC

5q22.2

PubMed ID: 14571277

Parienal foramina

MSX2

5q35.2

PubMed ID: 11896389

Sotos

NSD1

5q35

PubMed ID: 11007653

Iris Hypoplasia/Glaucoma

FOXC1

6p25

PubMed ID : 9792856

Saethre-Chotzen

TWIST1

7p21

PubMed ID: 8001967

Greig

GLI1

7p13

PubMed ID: 9843207

Sacral agenesis

HXLB9

7q36.3

PubMed ID: 8896572

Holoprosencephaly

SHH

7q36.3

PubMed ID: 14628292

CHARGE

CHD7

8q21

PubMed ID: 16691576

Nablus Mask-like Facial Syndrome

8q22

PubMed ID: 8530105

Langer-Giedion

TRPS1 & EXT1

8q24.1

PubMed ID : 9781025

Di George 2

critical region

10p13

PubMed ID : 11389161

Hypoparathyroidism, sensorineural deafness and renal disease (Barakat Syndrome)

GATA3

10p14

PubMed ID: 11017806

Parietal Foramina & 11p11.2 contiguous gene-deletion syndrome

ALX4

11p11.2

PubMed ID: 10806756

Multiple Exostoses

EXT2

11p11.2

PubMed ID: 11134238

Oculocutaneous Albinism, Type I; OCA1

TYR

11q14.3

PubMed ID: 7887422

Jacobsen Syndrome (11q Deletion Syndrome)

MLL
ETS1

11q23.3
11q24.3

PubMed ID: 7573047

Holonprosencephaly 5

ZIC2

13q32

PubMed ID: 11941488

Autosomal dominant hypodontia

PAX9

14q12-13

PubMed ID: 8004675

Polycystic kidney disease

PKD1

16p13.3

PubMed ID: 8583222

HNPP (deletion)

PMP22

17p12

PubMed ID: 1303229

Charcot-Marie-Tooth (duplication)

PMP22

17p12

PubMed ID: 8585580

Neurofibromatosis

NF1

17q11.2

PubMed ID: 12652298

Smith Magenis Syndrome

RAI1

17p11.2

PubMed ID: 11836356

van Buchem disease

SOST

17q12-21

a new common microdeletion syndrome

MAPT

17q21.31

PubMed ID: 7485158

Holoprosencephaly 4

TGIF

18p11.31

PubMed ID: 12244554

Alagille

JAG 1

20p12

PubMed ID: 7633421

Holonprosencephaly 1

TMEM1

21q22.3

PubMed ID: 12362044

Rare Di George deletions

22q11.2

PubMed ID: 9140395

Madelung Deformity; Leri-Weill dyschond-rosteosis; Idiopathic short stature

SHOX

Xp22.3

PubMed ID: 1999345

Xp21 microdeletion syndrome

DAX1

Xp21.2

PubMed ID: 9634530

Pelizaeus-Merzbacher

PLP

Xq22

PubMed ID: 9771704

XLP

SH2D1a

Xq25

PubMed ID: 9311745

X-linked heterotaxy

ZIC3

Xq26.2

*This BAC is currently only suitable for use on cases with cytogenetically visible rearrangements involving 5p13.1. To the best of our knowledge, no microdeletions involving this region have been published to date.