|
1
|
Theisen A and Shaffer LG: Disorders caused
by chromosome abnormalities. Appl Clin Genet. 3:159–174.
2010.PubMed/NCBI View Article : Google Scholar
|
|
2
|
Canfield MA, Honein MA, Yuskiv N, Xing J,
Mai CT, Collins JS, Devine O, Petrini J, Ramadhani TA, Hobbs CA, et
al: National estimates and race/ethnic-specific variation of
selected birth defects in the United States, 1999-2001. Birth
Defects Res A Clin Mol Teratol. 76:747–756. 2006.PubMed/NCBI View Article : Google Scholar
|
|
3
|
Manolakos E, Peitsidis P, Eleftheriades M,
Dedoulis E, Ziegler M, Orru S, Liehr T and Petersen MB: Prenatal
detection of full monosomy 21 in a fetus with increased nuchal
translucency: Molecular cytogenetic analysis and review of the
literature. J Obstet Gynaecol Res. 36:435–440. 2010.PubMed/NCBI View Article : Google Scholar
|
|
4
|
Errichiello E, Novara F, Cremante A, Verri
A, Galli J, Fazzi E, Bellotti D, Losa L, Cisternino M and Zuffardi
O: Dissection of partial 21q monosomy in different phenotypes:
Clinical and molecular characterization of five cases and review of
the literature. Mol Cytogenet. 9(21)2016.PubMed/NCBI View Article : Google Scholar
|
|
5
|
Fukai R, Hiraki Y, Nishimura G, Nakashima
M, Tsurusaki Y, Saitsu H, Matsumoto N and Miyake N: A de novo
1.4-Mb deletion at 21q22.11 in a boy with developmental delay. Am J
Med Genet A. 164A:1021–1028. 2014.PubMed/NCBI View Article : Google Scholar
|
|
6
|
Lyle R, Béna F, Gagos S, Gehrig C, Lopez
G, Schinzel A, Lespinasse J, Bottani A, Dahoun S, Taine L, et al:
Genotype-phenotype correlations in Down syndrome identified by
array CGH in 30 cases of partial trisomy and partial monosomy
chromosome 21. Eur J Hum Genet. 17:454–466. 2009.PubMed/NCBI View Article : Google Scholar
|
|
7
|
Roberson EDO, Wohler ES, Hoover-Fong JE,
Lisi E, Stevens EL, Thomas GH, Leonard J, Hamosh A and Pevsner J:
Genomic analysis of partial 21q monosomies with variable
phenotypes. Eur J Hum Genet. 19:235–238. 2011.PubMed/NCBI View Article : Google Scholar
|
|
8
|
Ilbery PL, Lee CW and Winn SM: Incomplete
trisomy in a mongoloid child exhibiting minimal stigmata. Med J
Aust. 48:182–184. 1961.PubMed/NCBI
|
|
9
|
Pelleri MC, Cicchini E, Locatelli C,
Vitale L, Caracausi M, Piovesan A, Rocca A, Poletti G, Seri M,
Strippoli P, et al: Systematic reanalysis of partial trisomy 21
cases with or without Down syndrome suggests a small region on
21q22.13 as critical to the phenotype. Hum Mol Genet. 25:2525–2538.
2016.PubMed/NCBI View Article : Google Scholar
|
|
10
|
Wechsler D: Manual for the Wechsler
Intelligence Scale for children. 3rd edition. The Psychological
Corporation, San Antonio, TX. 1991.
|
|
11
|
American Psychiatric Association:
Diagnostic and statistical manual of mental disorders. 5th edition.
American Psychiatric Association, Arlington, VA, 2013.
|
|
12
|
ISCN 2016: An International System for
Human Cytogenomic Nomenclature. McGowan-Jordan J, Simons A and
Schmid M (eds). Cytogenet Genome Res 149: 237-328, 2016.
|
|
13
|
Papoulidis I, Sotiriadis A, Siomou E,
Papageorgiou E, Eleftheriades M, Papadopoulos V, Oikonomidou E,
Orru S, Manolakos E and Athanasiadis A: Routine use of array
comparative genomic hybridization (aCGH) as standard approach for
prenatal diagnosis of chromosomal abnormalities. Clinical
experience of 1763 prenatal cases. Prenat Diagn. 35:1269–1277.
2015.PubMed/NCBI View
Article : Google Scholar
|
|
14
|
Bonaglia MC, Marelli S, Gottardi G, Zucca
C, Pramparo T, Giorda R, Grasso R, Borgatti R and Zuffardi O:
Subtelomeric trisomy 21q: A new benign chromosomal variant. Eur J
Med Genet. 50:54–59. 2007.PubMed/NCBI View Article : Google Scholar
|
|
15
|
Gijsbers ACJ, van Haeringen A, Bosch CAJ,
Hansson K, Verschuren M, Bakker E, Breuning MH and Ruivenkamp CAL:
A subtle familial translocation t(3;21)(p26.3;q22.3): An apparently
healthy boy with a 3p deletion and 21q duplication. Cytogenet
Genome Res. 128:245–249. 2010.PubMed/NCBI View Article : Google Scholar
|
|
16
|
Su MT, Kuan LC, Chou YY, Tan SY Kuo TC and
Kuo PL: Partial trisomy of chromosome 21 without the Down syndrome
phenotype. Prenat Diagn. 36:492–495. 2016.PubMed/NCBI View
Article : Google Scholar
|
|
17
|
Ravnan JB, Tepperberg JH, Papenhausen P,
Lamb AN, Hedrick J, Eash D, Ledbetter DH and Martin CL: Subtelomere
FISH analysis of 11,688 cases: An evaluation of the frequency and
pattern of subtelomere rearrangements in individuals with
developmental disabilities. J Med Genet. 43:478–489.
2006.PubMed/NCBI View Article : Google Scholar
|
|
18
|
Rowe LR, Lee JY, Rector L, Kaminsky EB,
Brothman AR, Martin CL and South ST: U-type exchange is the most
frequent mechanism for inverted duplication with terminal deletion
rearrangements. J Med Genet. 46:694–702. 2009.PubMed/NCBI View Article : Google Scholar
|
|
19
|
Yu S and Graf WD: Telomere capture as a
frequent mechanism for stabilization of the terminal chromosomal
deletion associated with inverted duplication. Cytogenet Genome
Res. 129:265–274. 2010.PubMed/NCBI View Article : Google Scholar
|
|
20
|
Falik-Borenstein TC, Pribyl TM, Pulst SM,
Van Dyke DL, Weiss L, Chu ML, Kraus J, Marshak D and Korenberg JR:
Stable ring chromosome 21: Molecular and clinical definition of the
lesion. Am J Med Genet. 42:22–28. 1992.PubMed/NCBI View Article : Google Scholar
|
|
21
|
McGinniss MJ, Kazazian HH Jr, Stetten G,
Petersen MB, Boman H, Engel E, Greenberg F, Hertz JM, Johnson A,
Laca Z, et al: Mechanisms of ring chromosome formation in 11 cases
of human ring chromosome 21. Am J Hum Genet. 50:15–28.
1992.PubMed/NCBI
|
|
22
|
Bassett AS, Chow EW and Weksberg R:
Chromosomal abnormalities and schizophrenia. Am J Med Genet.
97:45–51. 2000.PubMed/NCBI
|
|
23
|
Janowsky DS and Davis JM: Diagnosis and
treatment of depression in patients with mental retardation. Curr
Psychiatry Rep. 7:421–428. 2005.PubMed/NCBI
|
|
24
|
Strang JF, Kenworthy L, Daniolos P, Case
L, Wills MC, Martin A and Wallace GL: Depression and anxiety
symptoms in children and adolescents with autism spectrum disorders
without intellectual disability. Res Autism Spectr Disord.
6:406–412. 2012.PubMed/NCBI View Article : Google Scholar
|
|
25
|
Kaneva RP, Chorbov VM, Milanova VK, Kostov
CS, Nickolov KI, Chakarova CF, Stoyanova VS, Nikolova-Hill AN,
Krastev SK, Onchev GN, et al: Linkage analysis in bipolar pedigrees
adds support for a susceptibility locus on 21q22. Psychiatr Genet.
14:101–106. 2004.PubMed/NCBI View Article : Google Scholar
|
|
26
|
Liu J, Juo SH, Terwilliger JD, Grunn A,
Tong X, Brito M, Loth JE, Kanyas K, Lerer B, Endicott J, et al: A
follow-up linkage study supports evidence for a bipolar affective
disorder locus on chromosome 21q22. Am J Med Genet. 105:189–194.
2001.PubMed/NCBI
|
|
27
|
Poelmans G, Engelen JJM, Van
Lent-Albrechts J, Smeets HJ, Schoenmakers E, Franke B, Buitelaar
JK, Wuisman-Frerker M, Erens W, Steyaert J, et al: Identification
of novel dyslexia candidate genes through the analysis of a
chromosomal deletion. Am J Med Genet B Neuropsychiatr Genet.
150B:140–147. 2009.PubMed/NCBI View Article : Google Scholar
|
|
28
|
Numata S, Nakataki M, Iga J, Tanahashi T,
Nakadoi Y, Ohi K, Hashimoto R, Takeda M, Itakura M, Ueno S, et al:
Association study between the pericentrin (PCNT) gene and
schizophrenia. Neuromolecular Med. 12:243–247. 2010.PubMed/NCBI View Article : Google Scholar
|
|
29
|
Numata S, Iga J, Nakataki M, Tayoshi S,
Tanahashi T, Itakura M, Ueno S and Ohmori T: Positive association
of the pericentrin (PCNT) gene with major depressive disorder in
the Japanese population. J Psychiatry Neurosci. 34:195–198.
2009.PubMed/NCBI
|
|
30
|
Aleksovska K, Leoncini E, Bonassi S,
Cesario A, Boccia S and Frustaci A: Systematic review and
meta-analysis of circulating S100B blood levels in schizophrenia.
PLoS One. 9:e106342:2014.PubMed/NCBI View Article : Google Scholar
|
|
31
|
Dagdan E, Morris DW, Campbell M, Hill M,
Rothermundt M, Kästner F, Hohoff C, von Eiff C, Krakowitzky P, Gill
M, et al: Functional assessment of a promoter polymorphism in
S100B, a putative risk variant for bipolar disorder. Am J Med Genet
B Neuropsychiatr Genet. 156B:691–699. 2011.PubMed/NCBI View Article : Google Scholar
|
|
32
|
da Rosa MI, Simon C, Grande AJ, Barichello
T, Oses JP and Quevedo J: Serum S100B in manic bipolar disorder
patients: Systematic review and meta-analysis. J Affect Disord.
206:210–215. 2016.PubMed/NCBI View Article : Google Scholar
|
|
33
|
Guloksuz SA, Abali O, Aktas Cetin E,
Bilgic Gazioglu S, Deniz G, Yildirim A, Kawikova I, Guloksuz S and
Leckman JF: Elevated plasma concentrations of S100 calcium-binding
protein B and tumor necrosis factor alpha in children with autism
spectrum disorders. Br J Psychiatry. 39:195–200. 2017.PubMed/NCBI View Article : Google Scholar
|
|
34
|
Egger G, Roetzer KM, Noor A, Lionel AC,
Mahmood H, Schwarzbraun T, Boright O, Mikhailov A, Marshall CR,
Windpassinger C, et al: Identification of risk genes for autism
spectrum disorder through copy number variation analysis in
Austrian families. Neurogenetics. 15:117–127. 2014.PubMed/NCBI View Article : Google Scholar
|
|
35
|
Iossifov I, Ronemus M, Levy D, Wang Z,
Hakker I, Rosenbaum J, Yamrom B, Lee YH, Narzisi G, Leotta A, et
al: De novo gene disruptions in children on the autistic spectrum.
Neuron. 74:285–299. 2012.PubMed/NCBI View Article : Google Scholar
|
|
36
|
Iossifov I, Levy D, Allen J, Ye K, Ronemus
M, Lee YH, Yamrom B and Wigler M: Low load for disruptive mutations
in autism genes and their biased transmission. Proc Natl Acad Sci
USA. 112:E5600–E5607. 2015.PubMed/NCBI View Article : Google Scholar
|
|
37
|
Kong R, Shao S, Wang J, Zhang X, Guo S,
Zou L, Zhong R, Lou J, Zhou J, Zhang J, et al: Genetic variant in
DIP2A gene is associated with developmental dyslexia in Chinese
population. Am J Med Genet B Neuropsychiatr Genet. 171B:203–208.
2016.PubMed/NCBI View Article : Google Scholar
|
|
38
|
Darnell JC, Van Driesche SJ, Zhang C, Hung
KY, Mele A, Fraser CE, Stone EF, Chen C, Fak JJ, Chi SW, et al:
FMRP stalls ribosomal translocation on mRNAs linked to synaptic
function and autism. Cell. 146:247–261. 2011.PubMed/NCBI View Article : Google Scholar
|
