Detection Rates Table
The Detection Rates Table is a compilation of data based on extensive literature review. The detection rates listed reflect the likelihood that Signature Genomic Laboratories' current array CGH technology, the SignatureChip®, will detect a microdeletion or microduplication in patients with phenotypes consistent with each specific clinical condition. These rates are subject to change as additional information is learned about the use of array CGH in clinical diagnostic testing. For most conditions, a negative test result does not exclude a specific clinical diagnosis. The SignatureChip® will not detect sequence alterations or single base pair mutations, or abnormalities in other genes or loci not tested with this technology.
# | A | B | C | D | F | G | H | J | K | L | M | N | O | P | R | S | T | W | X
| Condition | OMIM# | Gene/Locus | Location | Detection rate for deletion/duplication by microarray | Comments | References | |
|---|---|---|---|---|---|---|---|
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* Duplication of these regions are associated with a syndrome/clinical phenotype. ■ Microdeletions or microduplications have been associated with this condition. □ Microdeletions or microduplications are rare or not yet associated with this condition (OS) based on clinical indication, SignatureChip OS™ oligonucleotide micoarray testing may yield better results Information based on UCSC Genome Browser, March 2006 Assembly |
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| ■ | 1p36 Microdeletion GeneReviews Resources |
607872 | Multiple | 1p36 | ~99% have a detectable deletion | Heilstedt et al. 2003. Am J Hum Genet 72:1200-12. Medline Heilstedt et al. 2003. Clin Genet 64:310-16. Medline Yu et al. 2003. Hum Mol Genet 12:2145-52. Medline |
|
| ■ | 1q21.1 Microdeletion with susceptibility for thrombocytopenia-absent radius (TAR) Resources 1 Resources 2 |
274000 | Multiple | 1q21.1 | ~99% have a detectable deletion | Klopocki et al. 2007. Am J Hum Genet 80:232-40. Medline | |
| ■ | 1q41-q42 Microdeletion | Multiple | 1q41 | ~99% have a detectable deletion | Candidate gene DISP1 (607502) | Shaffer et al. 2007. Genet Med 9:607-616. Medline Slavotinek et al. 2006. Eur J Hum Genet 14:999-1008. Medline |
|
| ■ | 2p15-2p16.1 Microdeletion | Multiple | 2p15-p16.1 | ~99% have a detectable deletion | Racjan-Separovic et al. 2007. J Med Genet 44:269-76. Medline | ||
| ■ | 2q32.2-q33 Microdeletion | 119540 | Multiple | 2q33.1 | ~99% have a detectable deletion | Candidate gene SATB2 (119540) | Van Buggenhout et al. 2005. Eur J Med Genet 48:276-89. Medline |
| ■ | 3q29 Microdeletion | 609425 | Multiple | 3q29 | ~99% have a detectable deletion | Willatt et al. 2005. Am J Hum Genet 77:154-60. Medline | |
| ■ | 6p25.3 Microdeletion Resources |
Multiple | 6p25.3 | ~99% have a detectable deletion | Considerable phenotypic overlap with Craniocerebello-cardiac dysplasia (220210). | Descipio et al. 2005. Am J Med Genet 134:3-11. Medline Lin et al. 2005. Am J Med Genet 136:162-68. Medline |
|
| ■ | 8p23.1 Microdeletion * Resources 1 Resources 2 |
Multiple | 8p23.1 | ~99% have a detectable deletion | Candidate gene GATA4 (600576). Phenotypic overlap with Congenital diaphragmatic hernia 2 (222400). | Slavotinek et al. 2006. Eur J Hum Genet 14:999-1008. Medline Pehlivan et al. 1999. Am J Med Genet 83:201-6. Medline Barber et al. 2008. Eur J Hum Genet 16:18-27. Medline |
|
| ■ | 9q22.32-q22.33 Microdeletion | Multiple | 9q22.33 | ~99% have a detectable deletion | Candidate gene TGFBR1 (190181) | Redon et al. 2006. Eur J Hum Genet 14:759-67. Medline | |
| ■ | 9q34 Microdeletion * Resources |
610253 | Multiple | 9q34.3 | ~99% have a detectable deletion | Candidate gene EHMT1 (610253). Rare mutations not detectable by array CGH. | Yatsenko et al. 2005. J Med Genet 42:328-35. Medline Kleefstra et al. 2006. Am J Hum Genet 79:370-77. Medline Ruiter et al. 2007. Clin Genet 72:362-68. Medline |
| ■ | 10q22.3-q23.31 Microdeletion | Multiple | 10q22.3-q23.31 | ~99% have a detectable deletion | Balciuniene et al. 2007. Am J Hum Genet 80:938-47. Medline Farrell et al. 1993. J Med Genet 30:248-50. Medline |
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| ■ | 12q14.1-q15 Microdeletion * | Multiple | 12q14.3 | ~99% have a detectable deletion | Candidate genes LEMD3 (607844) and GRIP1 (604597). Phenotypic overlap with Buschke-Ollendorff/ Osteopoikiloisis (166700). | Menten et al. 2007. J Med Genet 44:264-68. Medline | |
| ■ | 12q24.21-12q24.23 Microduplication * | Multiple | 12q24.21-q24.23 | ~99% have a detectable duplication | Doco-Fenzy et al. 2006. Am J Med Genet 140:212-21. Medline Ruiter et al. 2006. Clin Dysmorphol 15:133-37. Medline |
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| ■ | 14q11.2 Microdeletion | Multiple | 14q11.2 | ~99% have a detectable deletion | Candidate gene CHD8 (610528) Candidate gene SUPT16H (605012) |
Zahir et al. 2007. J Med Genet 44:556-61. Medline | |
| ■ | 14q22-14q23 Microdeletion GeneReviews |
600037 | Multiple | 14q22-q23 | ~99% have a detectable deletion | Nolen et al. 2006. Am J Med Genet 140:1711-1718. Medline | |
| ■ | 15q24.1-q24.3 Microdeletion | Multiple | 15q24.1-q24.3 | ~99% have a detectable deletion | Sharp et al. 2007. Hum Mol Genet 16:567-72. Medline Klopocki et al. 2007. Eur J Pediatr. Medline |
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| ■ | 16p11.2-p12.2 Microdeletion * | Multiple | 16p11.2-p12.2 | ~99% have a detectable deletion | Ballif et al. 2007. Nat Genet 39:1071-73. Medline Finelli et al. 2004. J Med Genet 41:e90. Medline |
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| ■ | 16p13.1 Microdeletion predisposing to autism and/or mental retardation * | Multiple | 16p13.1 | ~99% have a detectable deletion | Ullmann et al. 2007. Hum Mutat 28:674-82. Medline | ||
| ■ | 16p13.3 Microdeletion/Severe Rubinstein-Taybi | 610543 | CREBBP DNASE1 |
16p13.3 | ~99% have a detectable deletion | Phenotypic overlap with Rubenstein-Taybi (180849) | Bartsch et al. 2006. Hum Genet 120:179-86. Medline Bartsch et al. 1999. Eur J Hum Genet 7:748-56. Medline |
| ■ | 17q21.3 Microdeletion * Resources |
610443 | Multiple | 17q21.3 | ~99% have a detectable deletion | Candidate gene MAPT (157140) | Shaw-Smith et al. 2006. Nat Genet 38:1032-37. Medline Sharp et al. 2006. Nat Genet 38:1038-42. Medline Kirkhhoff et al. 2007. Eur J Med Genet 50:256-63. Medline |
| ■ | 22q11.2 Distal microdeletion | 611867 | Multiple | 22q11.2 | ~99% have a detectable deletion | Ben-Shachar et al. 2008. Am J Hum Genet 82:214-21. Medline Rauch et al. 2005. J Med Genet 42:871-76. Medline |
|
| ■ | 22q13.3 Microdeletion* GeneReviews |
606232 | Multiple | 22q13.3 | ~99% have a detectable deletion | Candidate genes ARSA (607574) and SHANK3 (606230) | Anderlid et al. 2002. Hum Genet 110:439-43. Medline Luciani et al. 2003. J Med Genet 40:690-96. Medline Phelan et al. 2001. Am J Med Genet 101:91-99. Medline Okamoto et al. 2007. Am J Med Genet 143:2804-09. Medline |
| ■ | Xp11.3 Microdeletion Resources |
300578 | Multiple | Xp11.3 | ~99% have a detectable deletion | Candidate genes RP2 (312600) and ZNF674 (300573) | Zhang et al. 2006. Am J Med Genet 140:349-57. Medline Lugtenberg et al. 2006. Am J Hum Genet 78:265-78. Medline |
| ■ | Adrenal hypoplasia congenita (AHC)* GeneReviews |
300200 | NR0B1 | Xp21.2 | ~18% have a detectable deletion in isolated AHC; ~ 99% have a detectable deletion in AHC/GKD or AHC/GKD/DMD | ~53% have mutations not detectable by array CGH | Guo et al. 1995. JAMA 274:324-30. Medline Peter et al. 1998. J Clin Endocrin Metab 83: 2666-74. Medline |
| ■ | Adult-onset autosomal dominant leukodystrophy (ADLD)* | 169500 | LMNB1 | 5q23.2 | Precise detection rate unknown | Available as FISH test only. Not routinely tested by the SignatureChip | Padiath et al. 2006. Nat Genet 38:1114-23. Medline |
| ■ | Alagille GeneReviews |
118450 | JAG1 | 20p12.2 | 3-7% have a detectable deletion | Majority have mutations not detectable by array CGH | Krantz et al. 1998. Am J Hum Genet 62:1361-69. Medline Spinner et al. 2001. Hum Mutat 17:18-33. Medline |
| ■ | Albright hereditary osteodystrophy-like syndrome/Brachydactyly-MR Resources 1 Resources 2 |
600430 | Multiple | 2q37.3 | Precise detection rate unknown | Majority of reported deletions are detectable by array CGH | Aldred et al. 2004. J Med Genet 41:433-39. Medline Phelan et al. 1995. Am J Med Genet 58:1-7. Medline Shrimpton et al. 2004. Clin Genet 66:537-44. Medline Wilson et al. 1995. Am J Hum Genet 56:400-407. Medline |
| ■ | Alpha thalassemia mental retardation (ATR-16) See SignatureChipOS page for additional information GeneReviews |
141750 | Multiple | 16p13.3 | ~99% have a detectable deletion | Deletion HBA1 (141800) and HBA2 (141850) responsible for alpha-thalassemia phenotype. | Wilkie et al. 1990. Am J Hum Genet 46:1112-26. Medline Harteveld et al. 2007. Hum Genet. 122:283-92. Medline |
| ■ | Alzheimer disease, early onset with cerebral amyloid angiopathy* GeneReviews |
104300 | APP | 21q21.3 | ~8% have a detectable duplication | Available as FISH test only. ~16% have mutations not detectable by FISH. Not routinely tested by the SignatureChip® | Rovelet-Lecrux et al. 2006. Nat Genet 38:24-26. Medline Raux et al. 2005. J Med Genet 42:793-93. Medline |
| ■ | Angelman* GeneReviews |
105830 | UBE3A | 15q11.2 | ~70% have a detectable deletion | ~30% have either paternal UPD or mutations not detectable by array CGH | Magenis et al. 1987. Am J Med Genet 28:829-38. Medline Zacowski et al. 1993. Am J Med Genet 46:7-11. Medline |
| ■ | Aniridia II GeneReviews |
106210 | PAX6 | 11p13 | Rare deletions unless associated with contiguous gene syndrome | Majority have mutations not detectable by array CGH | Crolla et al. 2002. Am J Hum Genet 71:1138-49. Medline Gronskov et al. 2001. Hum Genet 109:11-18. Medline |
| ■ | Atrial septal defect (ASD) with atrioventricular conduction defects Resources |
108900 | NKX2-5 | 5q35.2 | Deletions uncommon | ~10-27% have mutations not detectable by array CGH | Baekvad-Hansen et al. 2006. Am J Med Genet 140:427-33. Medline Sarkozy et al. 2005 J Med Genet 42:e16. Medline Benson et al. 1999. J Clin Invest 104:1567-73. Medline |
| ■ | Bannayan-Riley-Ruvalcaba (BRRS) Signature Summary on PTEN Hamartoma Tumor Syndrome GeneReviews |
153480 | PTEN | 10q23.31 | ~2-11% have a detectable deletion | ~60% have mutations not detectable by array CGH. Allelic with Cowden (158350)/ Macrocephaly/autism (605309)/ Proteus/Proteus-like (176920). | Marsh et al. 1998. Hum Mol Genet 7:507-15. Medline Marsh et al. 1999. Hum Mol Genet 8:1461-72. Medline Zhou et al. 2003. Am J Hum Genet 73:404-11. Medline |
| □ | Bartter, antenatal 1 Resources |
601678 | SLC12A1 | 15q21.1 | Precise detection rate unknown | Recessive condition. Majority have mutations not detectable by array CGH | Vargas-Poussou et al. 1998. Am J Hum Genet 62:1332-40. Medline Simon et al. 1996. Nat Genet 13:183-88. Medline |
| □ | Bartter, antenatal 2 Resources |
241200 | KCNJ1 | 11q24.3 | Precise detection rate unknown | Recessive condition. Majority have mutations not detectable by array CGH | Karolyi et al. 1997. Hum Mol Genet 6:17-26. Medline Feldmann et al. 1998. J Am Soc Nephrol 9:2357-59. Medline Jeck et al. 2001. Kidney Int 59:1803-11. Medline |
| □ | Bartter 3 (classic) Resources |
607364 | CLCNKB | 1p36.13 | Precise detection rate unknown | Recessive condition. Majority of cases have at least one mutation not detectable by array CGH | Konrad et al. 2000. J Am Soc Nephrol 11:1449-59. Medline Simon et al. 1997. Nat Genet 17:171-78. Medline |
| □ | Bartter 4 (infantile with sensorineural deafness) Resources |
602522 |
BSND or CLCNKA & CLCNKB |
1p32.3 1p36.13 |
Unknown | Recessive condition. ~73% have mutations not detectable by array CGH | Birkenhager et al. 2001. Nat Genet 29:310-14. Medline Schlingmann et al. 2004. NEJM 350:1314-19. Medline |
| ■ | Basal cell nevus/Gorlin-Goltz GeneReviews |
109400 | PTCH1 | 9q22.32 | Deletions uncommon | Allelic with Holoprosencephaly 7 (610828) | Boonen et al. 2005. Am J Med Genet 132:324-28. Medline |
| ■ | Beckwith-Wiedemann* GeneReviews |
130650 | IGF2 | 11p15.5 | Duplications uncommon | Majority have paternal isodisomy or mutations not detectable by array CGH | Henry et al. 1993. Eur J Hum Genet 1:19-29. Medline Li et al. 1998. Am J Med Genet 79:253-59. Medline Slavotinek et al. 1997. J Med Genet 34:819-26. Medline |
| □ | Bilateral frontoparietal polymicrogyria (BFPP) GeneReviews |
606854 | GPR56 | 16q13 | Unknown | Recessive disorder. Majority have mutations not detectable by array CGH | Piao et al. 2004. Science 303:2033-36. Medline |
| ■ | Blepharophimosis, ptosis epicanthus inversus (BPE) GeneReviews |
110100 | FOXL2 | 3q22.3 | Precise detection rate unknown | Crisponi et al. 2001. Nat Genet 27:159-66. Medline | |
| ■ | Branchio-Oto-Renal (BOR)/Melnick-Fraser GeneReviews |
113650 | EYA1 | 8q13.3 | 7-11% have a detectable deletion | ~40% have mutations not detectable by array CGH. Allelic with Oto-Facio-Cervical (166780) | Abdelhak et al. 1997. Hum Molec Genet 6:2247-55. Medline Chang et al. 2004. Hum Mutat 23:582-89. Medline |
| □ | Buschke-Ollendorff | 166700 | LEMD3 | 12q14.3 | Unknown | Phenotypic overlap with 12q14.1-q15 Microdeletion | Hellemans et al. 2004. Nat Genet 36:1213-18. Medline |
| ■ | Campomelic dysplasia (CMPD) Resources |
114290 | SOX9 | 17q24.3 | Deletions uncommon | Majority have mutations not detectable by array CGH | Olney et al. 1999. Am J Med Genet 84:20-24. Medline |
| ■ | Cat-eye* Resources 2 |
115470 | Multiple | 22q11.1 | Precise detection rate unknown | The supernumary marker chromosome is detectable by array CGH | Bartsch et al. 2005. Eur J Hum Genet 13:592-98. Medline Johnson et al. 1999. Genomics 57:306-309. Medline Rosias et al. 2001. Genet Couns 12:273-82. Medline |
| ■ | CHARGE Resources |
214800 | CHD7 | 8q12.2 | ~10% have a detectable deletion | Majority have mutations not detectable by array CGH | Vissers et al. 2004. Nat Genet 36:955-57. Medline |
| ■ | Cleidocranial dysplasia (CCD) GeneReviews |
119600 | RUNX2 | 6p12.3 | Deletions uncommon | Majority have mutations not detectable by array CGH | Mundlos et al. 1997. Cell 89:773-79. Medline Otto et al. 2002. Hum Mutat 19:209-16. Medline |
| ■ | Congenital adrenal hyperplasia (CAH) See SignatureChipOS for additional information GeneReviews |
201910 | CYP21A2 | 6p21.32 | Precise detection rate unknown | Recessive condition. ~95% have at least one mutation not detectable by array CGH | Speiser et al. 1992. J Clin Invest 90:584-95. Medline |
| □ | Congenital deafness with inner ear agenesis, microtia, & microdontia Resources |
610706 | FGF3 | 11q13.3 | Precise detection rate unknown | Recessive condition. Allelic with Oto-dental syndrome (166750) | Tekin et al. 2007. Am J Hum Genet 80:338-44. Medline |
| ■ | Congenital diaphragmatic hernia (CDH) GeneReviews |
142340 |
CHD2 NR2F2 |
15q26.1 15q26.2 |
1-2% have a detectable deletion | Klaasens et al. 2005. Am J Hum Genet 76:877-82. Medline Schlembach et al. 2001. Prenat Diagn 21:289-92. Medline |
|
| ■ | Congenital diaphragmatic hernia 2 (CDH2)* GeneReviews |
222400 | GATA4 candidate gene (600576) | 8p23.1 | ~3% have a detectable deletion | Majority of reported deletions are detectable by array CGH. Phenotypic overlap with 8p23.1 Microdeletion. | Slavotinek et al. 2006. Eur J Hum Genet 14:999-1008. Medline Slavotinek et al. 2005. J Med Genet 42:730-36. Medline Barber et al. 2007. Eur J Hum Genet 16:18-27. Medline |
| □ | Cornelia de Lange GeneReviews |
122470 | NIPBL | 5p13.2 | Rare deletions | ~47% have mutations not detectable by array CGH | DeScipio et al. 2005. Am J Med Genet 137:276-82. Medline Gillis et al. 2004. Am J Hum Genet 75:610-23. Medline Krantz et al. 2004. Nat Genet 36:631-35. Medline |
| ■ | Cowden Signature Summary on PTEN Hamartoma Tumor Syndrome GeneReviews |
158350 | PTEN | 10q23.31 | ~1% have a detectable deletion | ~80% have mutations not detectable by array CGH. Allelic with Bannayan-Riley-Ruvalcaba (153480)/ Macrocephaly/autism (605309)/ Proteus/Proteus-like (176920) | Marsh et al. 1998. Hum Mol Genet 7:507-15. Medline Zhou et al. 2003. Am J Hum Genet 73:404-11. Medline |
| ■ | Cri-du-Chat Resources |
123450 | Multiple | 5p15.2 | ~ 99% have a detectable deletion | Church et al. 1997. Genome Res 7:787-801. Medline Mainardi et al. 2001. J Med Genet. 38:151-58. Medline Zhang et al. 2005. Am J Hum Genet 76:312-26. Medline |
|
| ■ | Currarino Resources |
176450 | HLXB9 | 7q36.3 | 2-3% have a detectable deletion | 26-75% have mutations not detectable by array CGH | Hagan et al. 2000. Am J Hum Genet 66:1504-15. Medline Belloni et al. 2000. Am J Hum Genet 66:312-19. Medline |
| ■ | Dandy-Walker malformation (DWM) Resources 1 Resources 2 |
220200 | ZIC1 ZIC4 |
3q24 | Deletions uncommon | Grinberg et al. 2004. Nat Genet 36:1053-55. Medline | |
| ■ | DiGeorge/Velocardiofacial (VCF)* GeneReviews |
188400 |
HIRA TBX1 |
22q11.21 | >95% have a detectable deletion | Mantripragada et al. 2004. Int J Mol Med 13:273-79. Medline Shaikh et al. 2000. Hum Mol Genet. 9:489-501. Medline Yagi et al. 2003. Lancet 362:1366-73. Medline |
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| ■ | DiGeorge 2 Resources |
601362 | Multiple | 10p14 | <1% have a detectable deletion | Berend et al. 2000. Am J Med Genet 91:313-17. Medline Van Esch et al. 1999. Clin Genet 55:269-76. Medline |
|
| ■ | Dosage-sensitive sex reversal* Resources |
300018 | NR0B1 | Xp21.2 | Precise detection rate unknown | Bardoni et al. 1994. Nat Genet 7:497-501. Medline Sanlaville et al. 2004. Am J Med Genet 128:325-30. Medline |
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| ■ | Down syndrome critical region (DSCR)* Resources |
602917 | Multiple | 21q22.13 | Precise detection rate unknown | Majority of reported duplications are detectable by array CGH | Korenberg et al. 1990. Am J Hum Genet 47:236-46. Medline Delabar et al. 1993. Eur J Hum Genet 1:114-24. Medline Barlow et al. 2001. Genet Med 3:91-101. Medline Ronan et al. 2007. J Med Genet 44:448-51. Medline |
| ■ | Familial adenomatous polyposis (FAP)/Gardner/MR GeneReviews |
175100 | APC | 5q22.2 | >98% have a detectable deletion | Majority of isolated FAP cases have mutations not detectable by array CGH | Pilarski et al. 1999. Am J Med Genet 86:321-24. Medline Raedle et al. 2001. Am J Gastroent 96:3016-20. Medline |
| □ | Familial
hypocalciuric hypercalcemia 1 (HHC1 Resources 1 |
145980 | CASR | 3q21.1 | Unknown | ~40-67% have mutations not detectable by array CGH. Allelic with Neonatal severe primary hypoparathyroidism (239200). | Chou et al. 1995. Am J Hum Genet 56:1075-79. Medline Pearce et al. 1995. J Clin Invest 96:2683-92. Medline |
| ■ | Feingold Resources |
164280 | MYCN | 2p24.3 | ~4% have a detectable deletion | ~63% have deletions not detectable by array CGH | Celli et al. 2000. Am J Hum Genet 66:436-44. Medline van Bokhoven et al. 2005. Nat Genet 37:465-67. Medline |
| □ | FG 5* Resources |
300581 | MID2 | Xq22.3 | Rare duplications | Majority of reported duplications are detectable by array CGH | Jehee et al. 2005. Am J Med Genet 139:221-26. Medline |
| ■ | FMR1 microdeletion GeneReviews |
300624 | FMR1 | Xq27.3 | <1% of individuals with Fragile X have a detectable deletion | >99% of individuals with Fragile X have CGG triplet expansions or other mutations not detectable by by array CGH | Quan et al. 1995. Am J Hum Genet 56:1042-51. Medline Hammond et al. 2007. Am J Med Genet 72:430-34. Medline |
| ■ | Fryns GeneReviews |
229850 | DISP1 candidate gene (607502) | 1q41 | Precise detection rate unknown | Majority of reported deletions are detectable by by array CGH | Shaffer et al. 2007. Genet Med 9:607-616. Medline Slavotinek et al. 2006. Eur J Hum Genet 14:999-1008. Medline |
| □ |
Generalized epilepsy with febrile seizures plus 2 (GEFS+2) GeneReviews |
604233 | SCN1A | 2q24.4 | Unknown | ~6% have mutations not detectable by array CGH. Allelic with severe myoclonic epilepsy of infancy (607208). | Wallace et al. 2001. Am J Hum Genet 68:859-65. Medline |
| □ | Gitelman Resources |
263800 | SLC12A3 | 16q13 | Precise detection rate unknown | Recessive condition. Majority have at least one mutation not detectable by array CGH | Mastroianni et al. 1996. Am J Hum Genet 59:1019-26. Medline Syren et al. 2002. Hum Mutat 20:78. Medline |
| ■ | Glycerol kinase deficiency Resources |
300474 | GK | Xp21.2 | Rare deletions | Majority have mutations not detectable by array CGH | Sargent et al. 2000 J Med Genet 37:434-41. Medline |
| ■ | Greig cephalopolysyndactyly GeneReviews |
175700 | GLI3 | 7p14.1 | ~30% have a detectable deletion | Johnston et al. 2003. Am J Med Genet 123:236-42. Medline | |
| ■ | Hereditary hemorrhagic telangiectasia, type 2 GeneReviews |
600376 | ALK1 | 12q13.13 | ~1.7% have a detectable deletion | ~40% have mutations not detectable by array CGH | Lesca et al. 2004. Hum Mutat 23:289-99. Medline Shoukier et al. 2008. Clin Genet. 73:320-30. Medline |
| Holoprosencephaly SignatureChip® Detection Rates for Holoprosencephaly |
25-50% of cases with holoprosencephaly (HPE) have abnormal karyotypes, the vast majority of which are detectable by array CGH. 15-20% of HPE cases with normal chromosomes will have sequence mutations in SHH, ZIC2, SIX3, or TGIF. Sequence mutations are not detectable by array CGH. A negative microarray test result does not exclude the possibility that one or more of these genes may play a role in the patient's phenotype. >4.7% of chromosomally normal and mutation-analysis normal HPE cases have microdeletions in SHH, ZIC2, SIX3 or TGIF (Bendavid et al. 2006. Hum Genet 119:1-8. Medline). The majority of reported microdeletions are detectable by array CGH. |
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| □ | Holoprosencephaly 1 Signature Summary on Holoprosencephaly GeneReviews |
236100 | TMEM1 | 21q22.3 | Unknown | Muenke et al. 1995. Am J Hum Genet 57:1074-9. Medline Nagamine et al. 1997. Biochem Biophys Res Commun 235:185-90. Medline |
|
| ■ | Holoprosencephaly 2 Signature Summary on Holoprosencephaly GeneReviews |
157170 | SIX3 | 2p21 | ~1% have a detectable deletion | ~4% have mutations not detectable by array CGH | Bendavid et al. 2006. Hum Genet 119:1-8. Medline Dubourg et al. 2004. Hum Mutat 24:43-51. Medline Ming et al. 2002. Am J Hum Genet 71:1017-32. Medline |
| ■ | Holoprosencephaly 3 Signature Summary on Holoprosencephaly GeneReviews |
142945 | SHH | 7q36.3 | 1-2% have a detectable deletion | 6-8% have mutations not detectable by array CGH | Bendavid et al. 2006. Hum Genet 119:1-8. Medline Ming et al.2002. Am J Hum Genet 71:1017-32. Medline Nanni et al. 1999. Hum Mol Genet 8:2479-88. Medline |
| ■ | Holoprosencephaly 4 Signature Summary on Holoprosencephaly GeneReviews |
142946 | TGIF | 18p11.31 | <1% have a detectable deletion | ~1% have mutations not detectable by array CGH | Bendavid et al. 2006. Hum Genet 119:1-8. Medline Dubourg et al. 2004. Hum Mutat 24:43-51. Medline Gripp et al. 2000. Nat Genet 25:205-208. Medline Ming et al. 2002. Am J Hum Genet 71:1017-32. Medline |
| ■ | Holoprosencephaly 5 Signature Summary on Holoprosencephaly GeneReviews |
609637 | ZIC2 | 13q32.3 | <1% have a detectable deletion | ~3% have mutations not detectable by array CGH | Bendavid et al. 2006. Hum Genet 119:1-8. Medline Brown et al. 2001. Hum Molec Genet 10:791-96. Medline Dubourg et al. 2004. Hum Mutat 24:43-51. Medline |
| □ | Holoprosencephaly 6 Signature Summary on Holoprosencephaly GeneReviews |
605934 | HPE6 | 2q37.1 -q37.3 | Precise detection rate unknown | Majority of reported deletions are detectable by array CGH | Lehman et al. 2001. Am J Med Genet 100:179-81. Medline |
| □ | Holoprosencephaly 7 Signature Summary on Holoprosencephaly GeneReviews |
601309 | PTCH1 | 9q22.32 | Unknown | Allelic with Basal cell nevus/Gorlin-Goltz (109400) | Ming et al. 2002. Hum Genet 110:297-301. Medline |
| ■ | Holoprosencephaly 8 Signature Summary on Holoprosencephaly GeneReviews |
609408 | Multiple | 14q13.1-q13.2 | Precise detection rate unknown | Majority of reported deletions are detectable by array CGH | Kamnasaran et al. 2005. Genomics 85:608-21. Medline |
| □ | Holoprosencephaly and preaxial polydactyly* Signature Summary on Holoprosencephaly GeneReviews |
605651 | FBXW11 | 5q35.1 | Precise detection rate unknown | Majority of reported duplications are detectable by array CGH | Koolen et al. 2006. J Hum Genet 51:721-26. Medline |
| □ | Holt-Oram* GeneReviews |
142900 | TBX5 | 12q24.1 | Rare deletions | 30-35% have mutations not detectable by array CGH | Borozdin et al. 2006. Am J Med Genet 140:1880-86. Medline Brassington et al. 2003. Am J Hum Genet 73:74-85. Medline Cross et al. 2000. J Med Genet 37:785-87. Medline Doco-Fenzy et al. 2006. Am J Med Genet 140:212-21. Medline |
| ■ | Hypoparathyroidism, sensorineural deafness, renal disease (HDR) Resources |
146255 | GATA3 | 10p14 | ~40% have a detectable deletion | 10-20% have mutations not detectable by array CGH | Muroya et al. 2001. J Med Genet 38:374-80. Medline Van Esch et al. 2000. Nature 406:419-22. Medline |
| ■ | Jacobsen/11q terminal deletion disorder Resources 1 Resources 2 |
147791 | Multiple | 11q23 -11qter | Precise detection rate unknown | Majority of reported deletions are detectable by array CGH | De Pater et al. 1997. Genet Couns 8:335-39. Medline Grossfeld et al. 2004. Am J Med Genet 129:51-61. Medline Tunnacliffe et al. 1999. Genome Res 9:44-52. Medline |
| □ | Joubert 3 GeneReviews |
608629 | AHI1 | 6q23.3 | Unknown | Recessive condition. ~11% have at least one mutation not detectable by array CGH | Parisi et al. 2006. J Med Genet 43:334-39. Medline |
| ■ | Joubert 4 GeneReviews |
609583 | NPHP1 | 2q13 | Precise detection rate unknown | Recessive condition. Allelic with Nephronopthisis 1 (256100). | Parisi et al. 2004. Am J Hum Genet 75:82-91. Medline |
| □ | Joubert 5 GeneReviews |
610188 | CEP290 | 12q21.32 | Unknown | Recessive condition. ~7% have at least one mutation not detectable by array CGH. Allelic with Leber Congenital Amaurosis X (610142)/ Meckel 4 (611134)/ Senior-Loken 6 (610189). | Helou et al. 2007. J Med Genet 44:657-63. Medline |
| ■ | Juvenile polyposis (JPS), BMPR1A-related GeneReviews |
174900 | BMPR1A | 10q23.2 | ~1-7% have a detectable deletion | ~11-21% have mutations not detectable by array CGH | Sweet et al. 2005. JAMA 19:2465-73. Medline Pyatt et al. 2006. J Molec Diagn 8:84-88. Medline |