Supplementary Reference List for Table 4
Aldinger KA, Lehmann OJ, Hudgins L, Chizhikov VV, Bassuk AG, Ades LC, et al. FOXC1 is required for
normal cerebellar development and is a major contributor to chromosome 6p25.3 Dandy-Walker
malformation. Nat Genet 2009;41:1037-42.
Anderlid BM, Schoumans J, Anneren G, Sahlen S, Kyllerman M, Vujic M, et al. Subtelomeric
rearrangements detected in patients with idiopathic mental retardation. Am J Med Genet
2002;107:275-84.
Ariani F, Hayek G, Rondinella D, Artuso R, Mencarelli MA, Spanhol-Rosseto A, et al. FOXG1 is
responsible for the congenital variant of Rett syndrome. Am J Hum Genet 2008;83:89-93.
Bahi-Buisson N, Guttierrez-Delicado E, Soufflet C, Rio M, Daire VC, Lacombe D, et al. Spectrum of
epilepsy in terminal 1p36 deletion syndrome. Epilepsia 2008;49:509-15.
Balci S, Engiz O, Aktas D, Vargel I, Beksac MS, Mrasek K, et al. Ring chromosome 4 and WolfHirschhorn syndrome (WHS) in a child with multiple anomalies. Am J Med Genet A 2006;140:628-32.
Ballarati L, Rossi E, Bonati MT, Gimelli S, Maraschio P, Finelli P, et al. 13q Deletion and central nervous
system anomalies: further insights from karyotype-phenotype analyses of 14 patients. J Med Genet
2007;44:e60.
Battaglia A, Carey JC, Cederholm P, Viskochil DH, Brothman AR, Galasso C. Natural history of WolfHirschhorn syndrome: experience with 15 cases. Pediatrics 1999;103:830-6.
Battaglia A, Hoyme HE, Dallapiccola B, Zackai E, Hudgins L, McDonald-McGinn D, et al. Further
delineation of deletion 1p36 syndrome in 60 patients: a recognizable phenotype and common cause
of developmental delay and mental retardation. Pediatrics 2008;121:404-10.
Bergemann AD, Cole F, Hirschhorn K. The etiology of Wolf-Hirschhorn syndrome. Trends Genet
2005;21:188-95.
Boland E, Clayton-Smith J, Woo VG, McKee S, Manson FD, Medne L, et al. Mapping of deletion and
translocation breakpoints in 1q44 implicates the serine/threonine kinase AKT3 in postnatal
microcephaly and agenesis of the corpus callosum. Am J Hum Genet 2007;81:292-303.
Brown S, Gersen S, Anyane-Yeboa K, Warburton D. 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 1993;45:52-9.
Brown S, Russo J, Chitayat D, Warburton D. The 13q- syndrome: the molecular definition of a critical
deletion region in band 13q32. Am J Hum Genet 1995;57:859-66.
Bruno DL, Anderlid BM, Lindstrand A, van Ravenswaaij-Arts C, Ganesamoorthy D, Lundin J, et al.
Further molecular and clinical delineation of co-locating 17p13.3 microdeletions and
microduplications that show distinctive phenotypes. J Med Genet 2010;47:299-311.
Cardoso C, Leventer RJ, Ward HL, Toyo-Oka K, Chung J, Gross A, et al. Refinement of a 400-kb critical
region allows genotypic differentiation between isolated lissencephaly, Miller-Dieker syndrome, and
other phenotypes secondary to deletions of 17p13.3. Am J Hum Genet 2003;72:918-30.
Caselli R, Speciale C, Pescucci C, Uliana V, Sampieri K, Bruttini M, et al. Retinoblastoma and mental
retardation microdeletion syndrome: clinical characterization and molecular dissection using array
CGH. J Hum Genet 2007;52:535-42.
Cormier-Daire V, Molinari F, Rio M, Raoul O, de Blois MC, Romana S, et al. Cryptic terminal deletion
of chromosome 9q34: a novel cause of syndromic obesity in childhood? J Med Genet 2003;40:300-3.
Dawson AJ, Putnam S, Schultz J, Riordan D, Prasad C, Greenberg CR, et al. Cryptic chromosome
rearrangements detected by subtelomere assay in patients with mental retardation and dysmorphic
features. Clin Genet 2002;62:488-94.
De Vries BB, Knight SJ, Homfray T, Smithson SF, Flint J, Winter RM. Submicroscopic subtelomeric
1qter deletions: a recognisable phenotype? J Med Genet 2001;38:175-8.
Dobyns WB, Curry CJ, Hoyme HE, Turlington L, Ledbetter DH. Clinical and molecular diagnosis of
Miller-Dieker syndrome. Am J Hum Genet 1991;48:584-94.
Eash D, Waggoner D, Chung J, Stevenson D, Martin CL. Calibration of 6q subtelomere deletions to
define genotype/phenotype correlations. Clin Genet 2005;67:396-403.
Engels H, Schuler HM, Zink AM, Wohlleber E, Brockschmidt A, Hoischen A, et al. A phenotype map
for 14q32.3 terminal deletions. Am J Med Genet A 2012;158A:695-706.
Font-Montgomery E, Weaver DD, Walsh L, Christensen C, Thurston VC. Clinical and cytogenetic
manifestations of subtelomeric aberrations: Report of six cases. Birth Defects Res Part A Clin Mol
Teratol 2004;70:408-15.
Gajecka M, Mackay KL, Shaffer LG. Monosomy 1p36 deletion syndrome. Am J Med Genet C Semin
Med Genet 2007;145C:346-56.
Harada N, Visser R, Dawson A, Fukamachi M, Iwakoshi M, Okamoto N, et al. A 1-Mb critical region in
six patients with 9q34.3 terminal deletion syndrome. J Hum Genet 2004;49:440-4.
Hill AD, Chang BS, Hill RS, Garraway LA, Bodell A, Sellers WR, et al. A 2-Mb critical region implicated in
the microcephaly associated with terminal 1q deletion syndrome. Am J Med Genet A
2007;143A:1692-8.
Hopkin RJ, Schorry E, Bofinger M, Milatovich A, Stern HJ, Jayne C, et al. New insights into the
phenotypes of 6q deletions. Am J Med Genet 1997;70:377-86.
Iwakoshi M, Okamoto N, Harada N, Nakamura T, Yamamori S, Fujita H, et al. 9q34.3 deletion
syndrome in three unrelated children. Am J Med Genet A 2004;126A:278-83.
Knight SJ, Regan R, Nicod A, Horsley SW, Kearney L, Homfray T, et al. Subtle chromosomal
rearrangements in children with unexplained mental retardation. Lancet 1999;354:1676-81.
Koehler U, Holinski-Feder E, Ertl-Wagner B, Kunz J, von Moers A, von Voss H, et al. A novel
1p31.3p32.2 deletion involving the NFIA gene detected by array CGH in a patient with macrocephaly
and hypoplasia of the corpus callosum. Eur J Pediatr 2010;169:463-8.
Kortum F, Das S, Flindt M, Morris-Rosendahl DJ, Stefanova I, Goldstein A, et al. The core FOXG1
syndrome phenotype consists of postnatal microcephaly, severe mental retardation, absent
language, dyskinesia, and corpus callosum hypogenesis. J Med Genet 2011;48:396-406.
Kraynack NC, Hostoffer RW, Robin NH. Agenesis of the corpus callosum associated with DiGeorgevelocardiofacial syndrome: a case report and review of the literature. J Child Neurol 1999;14:754-6.
Lu W, Quintero-Rivera F, Fan Y, Alkuraya FS, Donovan DJ, Xi Q, et al. NFIA haploinsufficiency is
associated with a CNS malformation syndrome and urinary tract defects. PLoS Genet 2007;3:e80.
Maclean K, Smith J, St Heaps L, Chia N, Williams R, Peters GB, et al. Axenfeld-Rieger malformation
and distinctive facial features: Clues to a recognizable 6p25 microdeletion syndrome. Am J Med
Genet A 2005;132:381-5.
Maynard TM, Haskell GT, Peters AZ, Sikich L, Lieberman JA, LaMantia AS. A comprehensive analysis of
22q11 gene expression in the developing and adult brain. Proc Natl Acad Sci USA 2003;100:14433-8.
Merritt JL, 2nd, Zou Y, Jalal SM, Michels VV. Delineation of the cryptic 1qter deletion phenotype. Am J
Med Genet A 2007;143:599-603.
Moller RS, Kubart S, Hoeltzenbein M, Heye B, Vogel I, Hansen CP, et al. Truncation of the Down
syndrome candidate gene DYRK1A in two unrelated patients with microcephaly. Am J Hum Genet
2008;82:1165-70.
Nagamani SC, Erez A, Eng C, Ou Z, Chinault C, Workman L, et al. Interstitial deletion of 6q25.2-q25.3:
a novel microdeletion syndrome associated with microcephaly, developmental delay, dysmorphic
features and hearing loss. Eur J Hum Genet 2009;17:573-81.
Nagamani SC, Zhang F, Shchelochkov OA, Bi W, Ou Z, Scaglia F, et al. Microdeletions including YWHAE
in the Miller-Dieker syndrome region on chromosome 17p13.3 result in facial dysmorphisms, growth
restriction, and cognitive impairment. J Med Genet 2009;46:825-33.
Neal J, Apse K, Sahin M, Walsh CA, Sheen VL. Deletion of chromosome 1p36 is associated with
periventricular nodular heterotopia. Am J Med Genet A 2006;140:1692-5.
Nishimura DY, Swiderski RE, Alward WL, Searby CC, Patil SR, Bennet SR, et al. The forkhead
transcription factor gene FKHL7 is responsible for glaucoma phenotypes which map to 6p25. Nat
Genet 1998;19:140-7.
O'Driscoll MC, Black GC, Clayton-Smith J, Sherr EH, Dobyns WB. Identification of genomic loci
contributing to agenesis of the corpus callosum. Am J Med Genet A 2010;152A:2145-59.
Pihko H, Therman E, Uchida IA. Partial 11q trisomy syndrome. Hum Genet 1981;58:129-34.
Righini A, Ciosci R, Selicorni A, Bianchini E, Parazzini C, Zollino M, et al. Brain magnetic resonance
imaging in Wolf-Hirschhorn syndrome. Neuropediatrics 2007;38:25-8.
Robin NH, Feldman GJ, Aronson AL, Mitchell HF, Weksberg R, Leonard CO, et al. Opitz syndrome is
genetically heterogeneous, with one locus on Xp22, and a second locus on 22q11.2. Nat Genet
1995;11:459-61.
Robin NH, Opitz JM, Muenke M. Opitz G/BBB syndrome: clinical comparisons of families linked to
Xp22 and 22q, and a review of the literature. Am J Med Genet 1996;62:305-17.
Rosenfeld JA, Crolla JA, Tomkins S, Bader P, Morrow B, Gorski J, et al. Refinement of causative genes
in monosomy 1p36 through clinical and molecular cytogenetic characterization of small interstitial
deletions. Am J Med Genet A 2010;152A:1951-9.
Schimmenti LA, Berry SA, Tuchman M, Hirsch B. Infant with multiple congenital anomalies and
deletion (9)(q34.3). Am J Med Genet 1994;51:140-2.
Schneider A, Benzacken B, Guichet A, Verloes A, Bonneau D, Collot N, et al. Molecular cytogenetic
characterization of terminal 14q32 deletions in two children with an abnormal phenotype and
corpus callosum hypoplasia. Eur J Hum Genet 2008;16:680-7.
Schwarzbraun T, Vincent JB, Schumacher A, Geschwind DH, Oliveira J, Windpassinger C, et al.
Cloning, genomic structure, and expression profiles of TULIP1 (GARNL1), a brain-expressed candidate
gene for 14q13-linked neurological phenotypes, and its murine homologue. Genomics 2004;84:57786.
Sherr EH, Owen R, Albertson DG, Pinkel D, Cotter PD, Slavotinek AM, et al. Genomic microarray
analysis identifies candidate loci in patients with corpus callosum anomalies. Neurology
2005;65:1496-8.
Stanczak CM, Chen Z, Zhang YH, Nelson SF, McCabe ER. Deletion mapping in Xp21 for patients with
complex glycerol kinase deficiency using SNP mapping arrays. Hum Mutat 2007;28:235-42.
Stewart DR, Huang A, Faravelli F, Anderlid BM, Medne L, Ciprero K, et al. Subtelomeric deletions of
chromosome 9q: a novel microdeletion syndrome. Am J Med Genet A 2004;128A:340-51.
Thierry G, Beneteau C, Pichon O, Flori E, Isidor B, Popelard F, et al. Molecular characterization of 1q44
microdeletion in 11 patients reveals three candidate genes for intellectual disability and seizures. Am
J Med Genet A 2012;158A:1633-40.
Torgyekes E, Shanske AL, Anyane-Yeboa K, Nahum O, Pirzadeh S, Blumfield E, et al. The proximal
chromosome 14q microdeletion syndrome: delineation of the phenotype using high resolution SNP
oligonucleotide microarray analysis (SOMA) and review of the literature. Am J Med Genet A
2011;155A:1884-96.
Toyo-oka K, Shionoya A, Gambello MJ, Cardoso C, Leventer R, Ward HL, et al. 14-3-3epsilon is
important for neuronal migration by binding to NUDEL: a molecular explanation for Miller-Dieker
syndrome. Nat Genet 2003;34:274-85.
Tschopp O, Yang ZZ, Brodbeck D, Dummler BA, Hemmings-Mieszczak M, Watanabe T, et al. Essential
role of protein kinase B gamma (PKB gamma/Akt3) in postnatal brain development but not in glucose
homeostasis. Development 2005;132:2943-54.
Tutunculer F, Acunas B, Hicdonmez T, Deviren A, Pelitli V. Wolf-Hirschhorn syndrome with posterior
intraorbital coloboma cyst: an unusual case. Brain Dev 2004;26:203-5.
van Bon BW, Koolen DA, Borgatti R, Magee A, Garcia-Minaur S, Rooms L, et al. Clinical and molecular
characteristics of 1qter microdeletion syndrome: delineating a critical region for corpus callosum
agenesis/hypogenesis. J Med Genet 2008;45:346-54.
Vandewalle J, Van Esch H, Govaerts K, Verbeeck J, Zweier C, Madrigal I, et al. Dosage-dependent
severity of the phenotype in patients with mental retardation due to a recurrent copy-number gain
at Xq28 mediated by an unusual recombination. Am J Hum Genet 2009;85:809-22.
Wilson BT, Harikumar C, Fisher RB. Agenesis of the corpus callosum in mosaic tetrasomy 8p. Clin
Dysmorphol 2010;19:215-7.
Witters I, Chabchoub E, Vermeesch JR, Fryns JP. Submicroscopic distal deletion of the long arm of
chromosome 13(13q34) with corpus callosum agenesis. Am J Med Genet A 2009;149A:1834-6.
Yatsenko SA, Cheung SW, Scott DA, Nowaczyk MJ, Tarnopolsky M, Naidu S, et al. Deletion 9q34.3
syndrome: genotype-phenotype correlations and an extended deletion in a patient with features of
Opitz C trigonocephaly. J Med Genet 2005;42:328-35.
Zaki MS, Gillessen-Kaesbach G, Vater I, Caliebe A, Siebert R, Kamel AK, et al. Bladder exstrophy and
extreme genital anomaly in a patient with pure terminal 1q deletion: expansion of phenotypic
spectrum. Eur J Med Genet 2012;55:43-8.