|
1
|
Fujimoto A, Towner JW, Ebbin AJ, Kahlstrom
EJ and Wilson MG: Inherited partial duplication of chromosome No.
15. J Med Genet. 11:287–291. 1974.PubMed/NCBI View Article : Google Scholar
|
|
2
|
Rowe AG, Abrams L, Qu Y, Chen E and Cotter
PD: Tetrasomy 15q25->qter: Cytogenetic and molecular
characterization of an analphoid supernumerary marker chromosome.
Am J Med Genet. 93:393–398. 2000.PubMed/NCBI
|
|
3
|
Kim EY, Kim YK, Kim MK, Jung JM, Jeon GW,
Kim HR and Sin JB: A case of de novo duplication of 15q24-q26.3.
Korean J Pediatr. 54:267–271. 2011.PubMed/NCBI View Article : Google Scholar
|
|
4
|
Chandler K, Schrander-Stumpel CT, Engelen
J, Theunissen P and Fryns JP: Partial trisomy 15q: Report of a
patient and literature review. Genet Couns. 8:91–97.
1997.PubMed/NCBI
|
|
5
|
Elçioglu N, Fear C and Berry AC: Partial
trisomy of 15q due to inserted inverted duplication. Clin Genet.
52:442–445. 1997.PubMed/NCBI View Article : Google Scholar
|
|
6
|
Tatton-Brown K, Pilz DT, Orstavik KH,
Patton M, Barber JCK, Collinson MN, Maloney VK, Huang S, Crolla JA,
Marks K, et al: 15q overgrowth syndrome: A newly recognized
phenotype associated with overgrowth, learning difficulties,
characteristic facial appearance, renal anomalies and increased
dosage of distal chromosome 15q. Am J Med Genet A. 149A:147–154.
2009.PubMed/NCBI View Article : Google Scholar
|
|
7
|
McGowan-Jordan J, Simons A and Schmid M
(eds.): An international system for human cytogenomic nomenclature
(2016). S. Karger, Basel. Reprint of Cytogenet Genome Res 149,
2016.
|
|
8
|
Hiller B, Bradtke J, Balz H and Rieder H:
CyDAS: A cytogenetic data analysis system. BioInformatics.
21:1282–1283. 2005.PubMed/NCBI View Article : Google Scholar
|
|
9
|
Sosoi S, Streata I, Tudorache S, Burada F,
Siminel M, Cernea N, Ioana M, Iliescu DG and Mixich F: Prenatal and
postnatal findings in a 10.6 Mb interstitial deletion at
10p11.22-p12.31. J Hum Genet. 60:183–185. 2015.PubMed/NCBI View Article : Google Scholar
|
|
10
|
Puvabanditsin S, Khan I, Garrow E, Botti
C, Lambert G and Quan M: Partial trisomy 15q23 and partial monosomy
5p15.32: Case report and a literature review. Am J Med Genet A.
161A:3201–3204. 2013.PubMed/NCBI View Article : Google Scholar
|
|
11
|
El-Bassyouni HT, El-Gerzawy AM, Mohamed
AM, Kamel AK, Hussein HA, Thomas MM and El-Ruby M: Terminal 2q
deletion and partial trisomy chromosome 15q: A clinical and
cytogenetic study. Genet Couns. 25:151–158. 2014.PubMed/NCBI
|
|
12
|
Chen CP, Chen CY, Chern SR, Wu PS, Chen
SW, Lai ST, Lee CC, Yang CW and Wang W: Molecular cytogenetic
characterization of a duplication of 15q24.2-q26.2 associated with
anencephaly and neural tube defect. Taiwan J Obstet Gynecol.
56:550–553. 2017.PubMed/NCBI View Article : Google Scholar
|
|
13
|
Abe Y, Tanaka D, Soga T, Takeuchi T and
Iikura Y: A case of de novo distal duplication of chromosome 15.
Clin Genet. 63:76–78. 2003.PubMed/NCBI View Article : Google Scholar
|
|
14
|
Roggenbuck JA, Mendelsohn NJ, Tenenholz B,
Ladda RL and Fink JM: Duplication of the distal long arm of
chromosome 15: Report of three new patients and review of the
literature. Am J Med Genet A. 126A:398–402. 2004.PubMed/NCBI View Article : Google Scholar
|
|
15
|
McLaughlin BM, Hufnagel RB and Saal HM:
Small bowel malrotation in distal 15q duplication: Evidence for a
rare association. Clin Dysmorphol. 24:65–67. 2015.PubMed/NCBI View Article : Google Scholar
|
|
16
|
Miller MS, Rao PN, Dudovitz RN and Falk
RE: Ebstein anomaly and duplication of the distal arm of chromosome
15: Report of two patients. Am J Med Genet A. 139A:141–145.
2005.PubMed/NCBI View Article : Google Scholar
|
|
17
|
Cannarella R, Mattina T, Condorelli RA,
Mongioì LM, Pandini G, La Vignera S and Calogero AE: Chromosome 15
structural abnormalities: Effect on IGF1R gene expression and
function. Endocr Connect. 6:528–539. 2017.PubMed/NCBI View Article : Google Scholar
|
|
18
|
Luo M, Mulchandani S, Dubbs HA, Swarr D,
Pyle L, Zackai EH, Spinner NB and Conlin LK: Detection of mutually
exclusive mosaicism in a girl with genotype-phenotype
discrepancies. Am J Med Genet A. 167A:3091–3095. 2015.PubMed/NCBI View Article : Google Scholar
|
|
19
|
Schinzel A: A Catalog of Unbalanced
Chromosome Aberration in Man. 2nd edition. De Gruyter Verlag,
Berlin, 2001.
|
|
20
|
Tropea D, Giacometti E, Wilson NR, Beard
C, McCurry C, Fu DD, Flannery R, Jaenisch R and Sur M: Partial
reversal of Rett Syndrome-like symptoms in MeCP2 mutant mice. Proc
Natl Acad Sci USA. 106:2029–2034. 2009.PubMed/NCBI View Article : Google Scholar
|
|
21
|
Li Y, Laue K, Temtamy S, Aglan M, Kotan
LD, Yigit G, Canan H, Pawlik B, Nürnberg G, Wakeling EL, et al:
Temtamy preaxial brachydactyly syndrome is caused by
loss-of-function mutations in chondroitin synthase 1, a potential
target of BMP signaling. Am J Hum Genet. 87:757–767.
2010.PubMed/NCBI View Article : Google Scholar
|
|
22
|
Kloth K, Bierhals T, Johannsen J, Harms
FL, Juusola J, Johnson MC, Grange DK and Kutsche K: Biallelic
variants in SMAD6 are associated with a complex cardiovascular
phenotype. Hum Genet. 138:625–634. 2019.PubMed/NCBI View Article : Google Scholar
|
|
23
|
Gillis E, Kumar AA, Luyckx I, Preuss C,
Cannaerts E, van de Beek G, Wieschendorf B, Alaerts M, Bolar N,
Vandeweyer G, et al: Candidate gene resequencing in a large
bicuspid aortic valve-associated thoracic aortic aneurysm cohort:
SMAD6 as an important contributor. Front Physiol.
8(400)2017.PubMed/NCBI View Article : Google Scholar
|
|
24
|
Hostetler EM, Regalado ES, Guo DC, Hanna
N, Arnaud P, Muiño-Mosquera L, Callewaert BL, Lee K, Leal SM,
Wallace SE, et al: SMAD3 pathogenic variants: Risk for thoracic
aortic disease and associated complications from the montalcino
aortic consortium. J Med Genet. 56:252–260. 2019.PubMed/NCBI View Article : Google Scholar
|
|
25
|
Xu H, Xiao B, Ji X, Hu Q, Chen Y and Qiu
W: Nonmosaic tetrasomy 15q25.2 → qter identified with SNP
microarray in a patient with characteristic facial appearance and
review of the literature. Eur J Med Genet. 57:329–333.
2014.PubMed/NCBI View Article : Google Scholar
|
|
26
|
George-Abraham JK, Zimmerman SL, Hinton
RB, Marino BS, Witte DP and Hopkin RJ: Tetrasomy 15q25.2→qter
identified with SNP microarray in a patient with multiple anomalies
including complex cardiovascular malformation. Am J Med Genet A.
158A:1971–1976. 2012.PubMed/NCBI View Article : Google Scholar
|
|
27
|
Hall NG, Klenotic P, Anand-Apte B and Apte
SS: ADAMTSL-3/punctin-2, a novel glycoprotein in extracellular
matrix related to the ADAMTS family of metalloproteases. Matrix
Biol. 22:501–510. 2003.PubMed/NCBI View Article : Google Scholar
|
