Interstitial deletion of 13q associated with polymicrogyria

American Journal of Medical Genetics, Part A

Volumn 146, Issue 7, 2008, Pages 910-916

  Kogan, Jillene M ^a   Egelhoff, John C ^a   Saal, Howard M ^a  

^a CINCINNATI CHILDREN'S HOSPITAL MEDICAL CENTER   (United States)

Author keywords

Chromosome 13q deletion; Chromosome deletion; Mental retardation; Polymicrogyria

Indexed keywords

ARTICLE; CASE REPORT; CHROMOSOME DELETION 13; CLEFT PALATE; CLINICAL FEATURE; CYTOGENETICS; FAILURE TO THRIVE; FLUORESCENCE IN SITU HYBRIDIZATION; HEARING LOSS; HUMAN; INFANT; INGUINAL HERNIA; KARYOTYPE 46,XY; MALE; MENTAL DEFICIENCY; MICROGYRIA; MUSCLE HYPOTONIA; NUCLEAR MAGNETIC RESONANCE IMAGING; PRIORITY JOURNAL; RETINOBLASTOMA;

ABNORMALITIES, MULTIPLE; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 13; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; KARYOTYPING; MAGNETIC RESONANCE IMAGING; MALE; MALFORMATIONS OF CORTICAL DEVELOPMENT; TWINS, DIZYGOTIC;

EID: 41849121923     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.32188     Document Type: Article

References (19)

1. Alanay Y, Aktas D, Utine E, Talim B, Onderoglu L, Caglar M, Tuncbilek E. 2005. Is Dandy-Walker malformation associated with "distal 13q deletion syndrome"? Findings in a fetus supporting previous observations. Am J Med Genet Part A 136A:265-268.
2. Ballarati L, Rossi E, Bonati MT, Gimelli S, Maraschio P, Finelli P, Giglio S, Lapi E, Bedeschi MF, Guerneri S, Arrigo G, Patricelli MG, Mattina T, Guzzardi O, Pecile V, Police A, Scarano G, Larizza L, Zuffardi O, Giardino D. 2007. 13q Deletion and central nervous system anomalies: Further insights from karyotype-phenotype analyses of 14 patients. J Med Genet 44:e60.
3. Barkovich AJ, Kuzniecky RI, Jackson GD, Guerrini R, Dobyns WB. 2005. A developmental and genetic classification for malformations of cortical development. Neurology 65:1873-1887.
4. Baud O, Cormier-Daire V, Lyonnet S, Desjardins L, Turleau C, Doz F. 1999. Dysmorphic phenotype and neurological impairment in 22 retinoblastoma patients with constitutional cytogenetic 13q deletion. Clin Genet 55:478-482.
5. Bojinova RI, Schorderet DF, Addor MC, Gaide AC, Thonney F, Pescia G, Nenadov-Beck M, Balmer A, Munier FL. 2001. Further delineation of the facial 13q14 deletion syndrome in 13 retinoblastoma patients. Ophthalmic Genet 22:11-18.
6. Brown S, Gersen S, Anyane-Yeboa K, Warburton D. 1993. Preliminary definition of a "critical region" of chromosome 13 in q32: Report of 14 cases with 13q deletions and review of the literature. Am J Med Genet 45:52-59.
7. Brown S, Russo J, Chitayat D, Warburton D. 1995. The 13q-syndrome: The molecular definition of a critical deletion region in band 13q32. Am J Hum Genet 57:859-866.
8. Brown SA, Warburton D, Brown LY, Yu CY, Roeder ER, Stengel-Rutkowski S, Hennekam RC, Muenke M. 1998. Holoprosencephaly due to mutations in ZIC2, a homologue of Drosophila odd-paired. Nat Genet 20:180-183.
9. Caselli R, Speciale C, Pescucci C, Uliana V, Sampieri K, Bruttini M, Longo I, De Francesco S, Pramparo T, Zuffardi O, Frezzotti R, Acquaviva A, Hadjistilianou T, Renieri A, Mari E. 2007. Retinoblastoma and mental retardation microdeletion syndrome: Clinical characterization and molecular dissection using array CGH. J Hum Genet 52:535-542.
10. Chang BS, Piao X, Bodell A, Basel-Vanagaite L, Straussberg R, Dobyns WB, Qasrawi B, Winter RM, Innes AM, Voit T, Grant PE, Barkovich AJ, Walsh CA. 2003. Bilateral frontoparietal polymicrogyria: Clinical and radiological features in 10 families with linkage to chromosome 16. Ann Neurol 53:596-606.
11. Guerrini R, Filippi T. 2005. Neuronal migration disorders, genetics, and epileptogenesis. J Child Neurol 20:287-299.
12. Guerrini R, Barkovich AJ, Sztriha L, Dobyns WB. 2000. Bilateral frontal polymicrogyria: A newly recognized brain malformation syndrome. Neurology 54:909-913.
13. Jansen A, Andermann E. 2005. Genetics of the polymicrogyria syndromes. J Med Genet 42:369-378.
14. McCormack WM Jr, Shen JJ, Curry SM, Berend SA, Kashork C, Pinar H, Potocki L, Bejjani BA. 2002. Partial deletions of the long arm of chromosome 13 associated with holoprosencephaly and the Dandy-Walker malformation. Am J Med Genet 112:384-389.
15. Peiffer DA, Le JM, Steemers FJ, Chang W, Jenniges T, Garcia F, Haden K, Li J, Shaw CA, Belmont J, Cheung SW, Shen RM, Barker DL, Gunclerson KL. 2006. High-resolution genomic profiling of chromosomal aberrations using Infinium whole-genome genotyping. Genome Res 16:1136-1148.
16. Piao X, Basel-Vanagaite L, Straussberg R, Grant PE, Pugh EW, Doheny K, Doan B, Hong SE, Shugart YY, Walsh CA. 2002. An autosomal recessive form of bilateral frontoparietal polymicrogyria maps to chromosome 16q12.2-21. Am J Hum Genet 70:1028-1033.
17. Piao X, Hill RS, Bodell A, Chang BS, Basel-Vanagaite L, Straussberg R, Dobyns WB, Qasrawi B, Winter RM, Innes AM, Voit T, Ross ME, Michaud JL, Descarie JC, Barkovich AJ, Walsh CA. 2004. G protein-coupled receptor-dependent development of human frontal cortex. Science 303:2033-2036.
18. Slavotinek AM, Lacbawan F. 2003. Large interstitial deletion of chromosome 13q and severe short stature: Clinical report and review of the literature. Clin Dysmorphol 12:195-196.
19. Tranebjaerg L, Nielsen KB, Tommerup N, Warburg M, Mikkelsen M. 1988. Interstitial deletion 13q: Further delineation of the syndrome by clinical and high-resolution chromosome analysis of five patients. Am J Med Genet 29: 739-753.