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7. Beckwith-Wiedemann syndrome. OMIM ID: 130650.
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12. Williams-Beuren syndrome. OMIM ID: 194050.
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14. Di George syndrome OMIM ID: 188400.
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20. Prader-Willi syndrome OMIM ID: 176270.
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27. Kingston HM, Ledbetter DH, Tomlin PI, Gaunt KL. Miller-Dieker syndrome resulting from rearrangement of a familial chromosome 17 inversion detected by fluorescence in situ hybridization. J Med Genet 1996; 33(1): 69-71.
28. Kuwano A, Ledbetter SA, Dobyns WB, Emanuel BS, Ledbetter DH. Detection of deletions and cryptic translocations in Miller-Dieker syndrome by in situ hybridization. Am J Hum Genet 1991; 49(4): 707-714.
29. Cri-du-chat syndrome OMIM ID: 123450.
30. Stefanou EG, Hanna G, Foakes A, Crocker M, Fitchett M. Prenatal diagnosis of cri du chat (5p-) syndrome in association with isolated moderate bilateral ventriculomegaly. Prenat Diagn 2002; 22(1): 64-66.
31. Marinescu RC, Johnson EI, Grady D, Chen XN, Overhauser J. FISH analysis of terminal deletions in patients diagnosed with cri-du-chat syndrome. Clin Genet 1999; 56(4): 282-288.
32. Koshork CD, Sutton VR, Fonda Allen JS, Schmidt DE, Likhite ML, Potochi L, O’Brien WE, Shaffer LG. Low or absent unconjugated estriol in pregnancy: an indication for steroid sulfatase deficiency detectable by fluorescence in situ hybridization and biochemical analysis. Prenat Diagn 2002; 22(11): 1028-1032.
33. Aviram-Goldring A, Goldman B, Netanelov-Shapica I, Chen-Shtoyerman R, Zvulunor A, Ilan T, Peleg L. Deletion patterns of the STS gene and flanking sequences in Israeli X-linked ichthyosis patients and carriers: analysis by polymerase chain reaction and fluorescence in situ hybridization techniques. Int J Dermatol 2000; 39(3): 182-187.
34. Valdes-Flores M, Kofman-Alfaro SH, Jimenez-Vaca AL, Cuevas-Covarrubias SA. Carrier identification by FISH anlaysis in isolated cases of X-linked ichthyosis. Am J Med Genet 2001; 102(2): 146-148.
35. Li CC, Chao MC, Huang SP, Chou YH, Huang CH, Chen AH, Wu Y. Kallman syndrome--a case report. Kaohsiung J Med Sci 2002; 18(7): 355-358.
36. Hou JW, Tsai WY, Wang TR. Detection of KAL-1 gene deletion with fluorescence in situ hybridization. J Formos Med Assoc 1999; 98(6): 448-451.
37. Prasad C, Prasad AN, Chodirker BN, Lee C, Dawson AK, Jocelyn LJ, Chudley AE. Genetic evaluation of pervasive developmental disorders: the terminal 22q13 deletion syndrome may represent a recognizable phenotype. Clin Genet 2000; 57(2): 103-109.
38. Rossi E, Piccini F, Zollino M, Neri G, Caselli D, Tenconi R, Castellan C, Carrozzo R, Danesino C, Zuffardi O, Ragusa A, Castiglia L, Galesi O, Greco D, Romano C, Pierluigi M, Perfumo C, Di Rocco M, Faravelli F, Bricarelli FD, Bonaglia MC, Bedeschi MF, Borgatti R. Cryptic telomeric rearrangements in subjects with mental retardation associated with dysmorphism and congenital malformations. J Med Genet 2001; 38: 417-420.
39. Slavotinek A, Shaffer LG, Shapira SK. Monosomy 1p36. J Med Genet 1999; 36: 657-663.
40. De Vries BBA, Knight SJL, Homfray T, Smithson SF, Flint J, Winter RR. Submicroscopic subtelomeric 1qter deletions: a recognizable phenotype? J Med Genet 2001; 38: 175-178.
41. Wilson LC, Leverton K, Oude Luttikhuis MEM, Oley CA, Flint J, Wolstenholme J, Duckett DP,Barrow MA, Leonard JV, Read AP and Tremabath RC. Brachydactyly and mental retardation: an Albright hereditary osteodystrophy - like syndrome localized to 2q37. Am J Hum Genet 1995; 56: 400-407.
42. Wolff DJ, Clifton K, Karr C and Charles J. Pilot assessment of the subtelomeric regions of children with autism: Detection of a 2q deletion. Genet in Medic 2002; 4(1): 10-14.
43. Yakut S, Berker-Karauzum S, Simsec M. Zorlu G, Trak B and Luleci G. Short Report: Telomere specific fluorescence in situ hybridization analysis of couples with five or more recurrent miscarriages. Clin Genet 2002; 61: 26-31.
