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ChromosOmics - Database
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- mFISH - whole chromosome paints (wcps)
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CLINICAL
CYTOGENETICS
mFISH with whole
chromosome paints as probes is extensively applied in
clinical cytogenetics.
For review see e.g.:
- Li MM (2005) Advanced
molecular and cytogenetic technologies in birth
defect diagnosis and prevention. Beijing Da Xue
Xue Bao 37:14-19.
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Confirmation,
refinement and/or characterization of translocations
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- Babic I, Brajenovic-Milic
B, Petrovic O, Mustac E, Kapovic M (2007) Prenatal
diagnosis of complete trisomy 19q. Prenat Diagn
27:644-647.
- Balicek P, Juttnerova V,
Jarosova M, Fialova J, Fiedler Z, Kolmanova J (2001)
[Prenatal diagnosis of de novo complex balanced
rearrangements in chromosomes 3,4, and 13] Cas Lek
Cesk 140: 122-124. Czech.
- Bartels I, Starke H,
Argyriou L, Sauter SM, Zoll B, Liehr T (2007) An
exceptional complex chromosomal rearrangement (CCR)
with eight breakpoints involving four chromosomes
(1;3;9;14) in an azoospermic male with normal
phenotype. Eur J Med Genet 50:133-138
- Castillo Taucher S, Fuentes
AM, Paulos A, Pardo A (2002) [Multiple FISH and
multiple BAND: Application of cytogenetic and
molecular techniques in 5 cases] Rev Med Chil
130:511-518. Spanish
- Chen CP, Lin SP, Lin CC, Li
YC, Chern SR, Chen WM, Lee CC, Hsieh LJ, Wang W
(2005) Perinatal findings and molecular cytogenetic
analysis of de novo partial trisomy 16q
(16q22.1-->qter) and partial monosomy 20q
(20q13.3-->qter). Prenat Diagn 25:112-118.
- Chen CP, Huang HK, Ling PY,
Su YN, Chen M, Tsai FJ, Wu PC, Chern SR, Chen YT,
Lee CC, Wang W (2011) A de novo duplication of
chromosome 21q22.11→qter associated with Down
syndrome: prenatal diagnosis, molecular cytogenetic
characterization and fetal ultrasound findings.
Taiwan J Obstet Gynecol 50:492-498.
- Baruffi MR, de Souza DH,
Bicudo da Silva RA, Ramos ES, Moretti-Ferreira D
(2012) Autism spectrum disorder in a girl with a de
novo X;19 balanced translocation. Case Rep Gene
2012:578018.
- Belaud-Rotureau MA,
Elghezal H, Bernardin C, Sanlaville D, Radford-Weiss
I, Raoul O, Vekemans M, Romana SP (2003) [Spectral
karyotyping (SKY) principle, avantages and
limitations] Ann Biol Clin (Paris). 61:139-46.
Review. French.
- Borg I, Squire M, Menzel C,
Stout K, Morgan D, Willatt L, O'Brien PC,
Ferguson-Smith MA, Ropers HH, Tommerup N, Kalscheuer
VM, Sargan DR (2002) A cryptic deletion of 2q35
including part of the PAX3 gene detected by
breakpoint mapping in a child with autism and a de
novo 2;8 translocation. J Med Genet 39:391-399
- Catalina P, Montes R,
Ligero G, Sanchez L, de la Cueva T, Bueno C, Leone
PE, Menendez P (2008) Human ESCs predisposition to
karyotypic instability: Is a matter of culture
adaptation or differential vulnerability among hESC
lines due to inherent properties? Mol Cancer 7:76.
- Cetin Z, Berker Karaüzüm S,
Yakut S, Mihçi E, Baumer A, Wey E, Taçoy S, Bağci G,
Lüleci G (2005) M-FISH applications in clinical
genetics. Genet Couns 16:257-268.
- Chakraborty A, Panda SK,
Mohakud NK, Roy D, Padhi S, Koh SW, Hande MP,
Banerjee B (2019) A child with
partial trisomy 4 (q26 - qter) resulting from
paternally inherited translocation (4;18) associated
with multiple congenital anomalies and death.Genome
Integr 24;10:1.
- Chen CP, Lin SP, Lin CC, Li
YC, Hsieh LJ, Chern SR, Lee CC, Chen YJ, Wang W
(2005) Spectral karyotyping, fluorescence in situ
hybridization and molecular genetic analysis of de
novo partial trisomy 7p (7p15.1 --> pter) and
partial monosomy 9p (9p22 --> pter). Prenat Diagn
25:1170-1172.
- Chen CP, Chern SR, Lee CC,
Lin CC, Li YC, Hsieh LJ, Chen WL, Wang W (2005)
Prenatal diagnosis of de novo
t(2;18;14)(q33.1;q12.2;q31.2), dup(5)(q34q34),
del(7)(p21.1p21.1), and del(10)(q25.3q25.3) and a
review of the prenatally ascertained de novo
apparently balanced complex and multiple chromosomal
rearrangements. Prenat Diagn 26:138-146.
- Chen CP, Lin SP, Lin CC, Li
YC, Hsieh LJ, Huang JK, Lee CC, Wang W (2006)
Spectral karyotyping and fluorescence in situ
hybridization analysis of de novo partial trisomy 7p
(7p21.2-->pter) and partial monosomy 12q
(12q24.33-->qter). Genet Couns 17:57-63.
- Chen CP, Chen M, Chen CY,
Chern SR, Wu PS, Chang SP, Kuo YL, Chen WL, Pan CW,
Wang W (2014) Prenatal diagnosis and molecular
cytogenetic characterization of de novo pure partial
trisomy 6p associated with microcephaly,
craniosynostosis and abnormal maternal serum
biochemistry. Gene 536: 425-429.
- De Krijger RR, Mooy CM, Van
Hemel JO, Sulkers EJ, Kros JM, Bartelings MM,
Govaerts LC (1999) CHARGE association-related ocular
pathology in a newborn with partial trisomy 19q and
partial monosomy 21q, from a maternal translocation
(19;21) (q13.1;q22.3). Pediatr Dev Pathol 2:
577-581.
- de Vree PJ, Simon ME, van
Dooren MF, Stoevelaar GH, Hilkmann JT, Rongen MA,
Huijbregts GC, Verkerk AJ, Poddighe PJ (2009)
Application of molecular cytogenetic techniques to
clarify apparently balanced complex chromosomal
rearrangements in two patients with an abnormal
phenotype: case report. Mol Cytogenet 2:15.
- Dufke A, Singer S,
Borell-Kost S, Stotter M, Pflumm DA, Mau-Holzmann
UA, Starke H, Mrasek K, Enders H (2006) De
novostructural chromosomal imbalances: molecular
cytogenetic characterization of partial trisomies.
Cytogenet Genome Res 114:342-350.
- Dutta UR, Pidugu VK, Dalal
A. (2013) Partial proximal trisomy 14:
identification and molecular characterization in a
girl with global developmental delay. Genet Couns
24:207-216.
- Dutta UR, Ponnala R, Dalal
A (2014) A novel de novo balanced reciprocal
translocation t(18;22) associated with recurrent
miscarriages: A case report. J Reprod Infertil. 15:
113-116.
- Felbor U, Knötgen N, Schams
G, Buwe A, Steinlein C, Schmid M (2004) Mosaicism
for an ectopic NOR at 8pter and a complex
rearrangement of chromosome 8 in a patient with
severe psychomotor retardation. Cytogenet Genome Res
106:55-60.
- Gadzicki D, Baumer A, Wey
E, Happel CM, Rudolph C, Tönnies H, Neitzel H,
Steinemann D, Welte K, Klein C, Schlegelberger B
(2006) Jacobsen syndrome and Beckwith-Wiedemann
syndrome caused by a parental pericentric inversion
inv(11)(p15q24). Ann Hum Genet 70(Pt 6):958-964
- Grabowski M, Fauth C, Wirtz
A, Speicher MR (2000) Breakpoint within the
nucleolus organizer region resulting in a reciprocal
translocation t (4;14)(q21;p12). Am J Med Genet 92:
264-268.
- Gutiérrez-Mateo C, Gadea L,
Benet J, Wells D, Munné S, Navarro J (2005)
Aneuploidy 12 in a Robertsonian (13;14) carrier:
Case report. Hum Reprod 20:1256-1260
- Heng HH, Ye CJ, Yang F,
Ebrahim S, Liu G, Bremer SW, Thomas CM, Ye J, Chen
TJ, Tuck-Muller C, Yu JW, Krawetz SA, Johnson A
(2003) Analysis of marker or complex chromosomal
rearrangements present in pre- and post-natal
karyotypes utilizing a combination of G-banding,
spectral karyotyping and fluorescence in situ
hybridization. Clin Genet 63: 358-367.
- Hernando C, Plaja A, Català
V, Sarret E, Egozcue J, Fuster C (2004) Primary
amenorrhea in a woman with a cryptic complex
chromosome rearrangement involving the critical
regions Xp11.2 and Xq24. Fertil Steril 82:1666-1671
- Houge G, Liehr T, Schoumans
J, Ness GO, Solland K, Starke H, Claussen U, Strømme
P, Akre B, Vermeulen S (2003) Ten years follow up of
a boy with a complex chromosomal rearrangement:
going from a > 5 to 15-breakpoint CCR. Am J Med
Genet A 118:235-240.
- Imataka G, Arisaka O (2012)
Chromosome analysis using spectral karyotyping
(SKY). Cell Biochem Biophys 62:13-17.
- Jalal SM, Law ME (1999)
Utility of multicolor fluorescent in situ
hybridization in clinical cytogenetics. Genet Med 1:
181-186.
- Laus AC, Baratela WA,
Laureano LA, Santos SA, Huber J, Ramos ES, Rebelo
CC, Squire JA, Martelli L (2012) Karyotype/phenotype
correlation in partial trisomies of the long arm of
chromosome 16: case report and review of literature.
Am J Med Genet A 158A:821-827.
- Lee NC, Chen M, Ma GC, Lee
DJ, Wang TJ, Ke YY, Chien YH, Hwu WL (2010) Complex
rearrangements between chromosomes 6, 10, and 11
with multiple deletions at breakpoints. Am J Med
Genet A 152A:2327-2334.
- Lestou VS, O'Connell JX,
Robichaud M, Salski C, Mathers J, Maguire J, Chudoba
I, Sorensen PH, Lam W, Horsman DE (2002) Cryptic
t(X;18), ins(6;18), and SYT-SSX2 gene fusion in a
case of intraneural monophasic synovial sarcoma.
Cancer Genet Cytogenet 138:153-156.
- Kline AD, Griffin CA,
Haddadin MH, Chudoba I, Morsberger LA, Hawkins AL,
Amato RS, Munshi G, Cohen MM (2004) A de novo
complex karyotype with two independent balanced
translocations and a double inversion of chromosome
6 presenting with multiple congenital anomalies. Am
J Med Genet A 129:124-129
- Kotzot D, Holland H, Kohler
M, Froster UG (2001) A complex chromosome
rearrangement involving chromosome 8, 11, and 12
analyzed by conventional cytogenetic investigations,
fluorescence in situ hybridisation, and spectral
karyotyping. Ann Genet 44: 135-138.
- Kuechler A, Ziegler M,
Blank C, Rommel B, Bullerdiek J, Ahrens J, Claussen
U, Liehr T (2005) A highly complex chromosomal
rearrangement between five chromosomes in a healthy
female diagnosed in preparation for
intracytoplasmatic sperm injection. J Histochem
Cytochem 53:355-357.
- Luo Y, Shen M, Qian Y, Chen
Y, Xu C, Jin F (2009) [Genetic analysis of a complex
chromosome rearrangement involving two chromosomes
and four breakpoints in an azoospermic man.]
Zhonghua Yi Xue Yi Chuan Xue Za Zhi 26:200-202.
Chinese.
- Matthaei A, Werner W,
Gerlach EM, Koerner U, Tinschert S, Nitz I, Herr A,
Rump A, Bartsch O, Hinkel KG, Schröck E, Oexle K
(2005) Small reciprocal insertion detected by
spectral karyotyping (SKY) and delimited by
array-CGH analysis. Eur J Med Genet 48:328-338
- Matsumura M, Kubota T,
Hidaka E, Wakui K, Kadowaki S, Ueta I, Shimizu T,
Ueno I, Yamauchi K, Herzing LB, Nurmi EL, Sutcliffe
JS, Fukushima Y, Katsuyama T (2003) 'Severe'
Prader-Willi syndrome with a large deletion of
chromosome 15 due to an unbalanced
t(15,22)(q14;q11.2) translocation. Clin Genet 63:
79-81.
- McNeil N, Ried T (2000)
Novel molecular cytogenetic techniques for
identifying complex chromosomal rearrangements:
technology and applications in molecular medicine.
Expert Rev Mol Med 2000:1-14
- Mergenthaler-Gatfield S,
Holzgreve W, Hahn S (2008) Spectral Karyotyping
(SKY): Applications in Prenatal Diagnostics. Methods
Mol Biol 444:3-26.
- Midro AT, Panasiuk B,
Stasiewicz-Jarocka B, Iwanowski PS, Fauth C,
Speicher MR, Lesniewicz R (2000) Risk estimates for
carriers of chromosome reciprocal translocation
t(4;9)(p15.2;p13). Clin Genet 58: 153-155.
- Niida Y, Sato H, Ozaki M,
Itoh M, Ikeno K, Takase E (2016) Angelman syndrome
caused by chromosomal rearrangements: A case report
of 46,XX,+der(13)t(13;15)(q14.1;q12)mat,-15 with an
atypical phenotype and review of the literature.
Cytogenet Genome Res 149:247-257.
- Nowakowska B, Bocian E
(2004) [Molecular cytogenetic techniques and their
application in clinical diagnosis] Med Wieku Rozwoj
8:7-24. Review. Polish.
- Ocak Z, Surucu R (2012)
Molecular cytogenetic characterization of a case of
primary amenorrhea with intrachromosomal
triplication of the X chromosome q arm. Genet Couns
23:297-304.
- Peschka B, Leygraaf J,
Hansmann D, Hansmann M, Schröck E, Ried T, Engels H,
Schwanitz G, Schubert R (1999) Analysis of a de novo
complex chromosome rearrangement involving
chromosomes 4, 11, 12 and 13 and eight breakpoints
by conventional cytogenetic, fluorescence in situ
hybridization and spectral karyotyping. Prenat Diagn
19: 1143-1149.
- Petek E, Wagner K, Steiner
H, Schaffer H, Kroisel PM (2000) Prenatal diagnosis
of partial trisomy 4q26-qter and monosomy for the
Wolf-Hirschhorn critical region in a fetus with
split hand malformation. Prenat Diagn 20: 349-352.
- Peterson SE, Westra JW,
Paczkowski CM, Chun J (2008) Chromosomal mosaicism
in neural stem cells. Methods Mol Biol 438:197-204.
- Phelan MC, Blackburn W,
Rogers RC, Crawford EC, Cooley NR, Schröck E, Ning
Y, Ried T (1998) FISH analysis of a complex
chromosome rearrangement involving nine breakpoints
on chromosomes 6, 12, 14 and 16. Prenat Diagn 18:
1174-1180.
- Qian WP, Tan YQ, Tjia WM,
Song D, Guan XY, Lu GX (2005) [Molecular cytogenetic
analysis for a familial complex chromosomal
rearrangement] Zhonghua Yi Xue Yi Chuan Xue Za Zhi
22:302-304. Chinese
- Reddy KS, Sulcova V, Young
H, Blancato JK, Haddad BR (1999) De novo mosaic
add(3) characterized to be trisomy 14q31-qter using
spectral karyotyping and subtelomeric probes. Am J
Med Genet 82: 318-321.
- Ried T (1997) Images in
neuroscience. Am J Psychiatry 154: 594.
- Röthlisberger B, Kotzot D,
Brecevic L, Koehler M, Balmer D, Binkert F, Schinzel
A (1999) Recombinant balanced and unbalanced
translocations as a consequence of a balanced
complex chromosomal rearrangement involving eight
breakpoints in four chromosomes. Eur J Hum Genet 7:
873-883.
- Rosenberg C, Knijnenburg J,
Chauffaille Mde L, Brunoni D, Catelani AL, Sloos W,
Szuhai K, Tanke HJ (2005) Array CGH detection of a
cryptic deletion in a complex chromosome
rearrangement. Hum Genet 116:390-394.
- Schmidt H, Uhrig S, Lederer
G, Murken J, Speicher MR, Schuffenhauer S (2000)
Mosaicism for a dup(12)(q22q13) in a patient with
hypomelanosis of Ito and asymmetry. J Med Genet 37:
804-807.
- Schmidt T, Bierhals T,
Kortüm F, Bartels I, Liehr T, Burfeind P, Shoukier
M, Frank V, Bergmann C, Kutsche K (2014)
Branchio-Otic syndrome caused by a genomic
rearrangement: clinical findings and molecular
cytogenetic studies in a patient with a pericentric
inversion of chromosome 8. Cytogenet Genome Res
142:1-6.
- Schoumans J, Ruivenkamp C,
Holmberg E, Kyllerman M, Anderlid BM, Nordenskjöld M
(2005) Detection of chromosomal imbalances in
children with idiopathic mental retardation by array
based comparative genomic hybridisation (array-CGH).
J Med Genet 42:699-705
- Schröck E, Veldman T,
Padilla-Nash H, Ning Y, Spurbeck J, Jalal S, Shaffer
LG, Papenhausen P, Kozma C, Phelan MC, Kjeldsen E,
Schonberg SA, O'Brien P, Biesecker L, du Manoir S,
Ried T (1997) Spectral karyotyping refines
cytogenetic diagnostics of constitutional
chromosomal abnormalities. Hum Genet 101: 255-262.
- Schwarzbraun T, Ullmann R,
Schubert M, Ledinegg M, Ofner L, Windpassinger C,
Wagner K, Kroisel PM, Petek E (2006)
Characterization of a de novo complex chromosome
rearrangement (CCR) involving chromosomes 2 and 12,
associated with mental retardation and impaired
speech development. Cytogenet Genome Res 115:84-89
- Seidel J, Heller A, Senger
G, Starke H, Chudoba I, Kelbova C, Tönnies H,
Neitzel H, Haase C, Beensen V, Zintl F, Claussen U,
Liehr T (2003) A multiple translocation event in a
patient with hexadactyly, facial dysmorphism, mental
retardation and behavior disorder characterized
comprehensively by molecular cytogenetics-Case
report and review of the literature Europ. J.
Pedriat 162: 582-588.
- Song HL, Chen BJ, Fang Q,
Xie YJ, Lin SB, Wu JZ (2012) [Spectral karyotyping
of seven prenatally detected marker chromosomes and
complex chromosome aberrations]. Zhonghua Yi Xue Yi
Chuan Xue Za Zhi. 29:393-397.
- Takano T, Yamanouchi Y,
Tanaka F (2003) True hermaphroditism with
46,X,+22p/46,XY and gonadal mosaicism detected by
fluorescence in situ hybridization. Ann Genet
46:57-60.
- Tanemura M, Suzumori K,
Nishikawa N, Ishihara Y (2001) Multicolour spectral
karyotyping for complex chromosomal rearrangements
in repeated abortion or congenital anomalies. Prenat
Diagn. 21: 1123-1128.
- Thienpont B, Gewillig M,
Fryns JP, Devriendt K, Vermeesch J (2006) Molecular
cytogenetic characterization of a constitutional
complex intrachromosomal 4q rearrangement in a
patient with multiple congenital anomalies.
Cytogenet Genome Res 114:338-341.
- Trimborn M, Liehr T, Belitz
B, Pfeiffer L, Varon R, Neitzel H, Tönnies H (2005)
Prenatal diagnosis and molecular cytogenetic
characterization of an unusual complex structural
rearrangement in a pregnancy following
intracytoplasmic sperm injection (ICSI). J Histochem
Cytochem 53:351-354
- Uhrig S, Schuffenhauer S,
Fauth C, Wirtz A, Daumer-Haas C, Apacik C, Cohen M,
Müller-Navia J, Cremer T, Murken J, Speicher MR
(1999) Multiplex-FISH for pre- and postnatal
diagnostic applications. Am J Hum Genet 65: 448-462.
- Une T, Yokoyama Y, Ninomiya
S, Shinozuka M, Maruyama H, Morishima T (2006)
Assessment of molecular cytogenetic methods for the
detection of chromosomal abnormalities. Acta Med
Okayama 60:279-287
- Utine GE, Thoelen R,
Peeters H, Vermeesch J, Fryns JP (2005) Partial
trisomy 11q syndrome (11q23.1-->11qter) due to de
novo t (11q; 13q) detected by multicolor
fluorescence in situ hybridisation. Genet Couns
16:291-295
- Velagaleti GV, Jalal SM,
Michaelis RC, Rowe TF, Nichols JR, Lockhart LH
(2003) Molecular cytogenetic characterization of a
de novo unbalanced translocation leading to trisomy
17q25-->qter and monosomy 18p11.3-->pter in a
girl with dysmorphic features. Clin Dysmorphol
12:29-33
- Velinov M, Gu H, Yeboa K,
Warburton D, Tubo T, Dhuper S, Lanter S, Delprino D,
Kupchik G, Jenkins EC (2002) Hypoplastic left heart
in a female infant with partial trisomy 4q due to de
novo 4;21 translocation. Am J Med Genet 107:
330-333.
- Vermeulen S, Menten B, Van
Roy N, Van Limbergen H, De Paepe A, Mortier G,
Speleman F (2004) Molecular cytogenetic analysis of
complex chromosomal rearrangements in patients with
mental retardation and congenital malformations:
delineation of 7q21.11 breakpoints. Am J Med Genet A
124:10-18.
- Vundinti BR, Korgaonkar S,
Ghosh K (2012) De novo origin of multiple small
supernumerary marker chromosomes (sSMCs) in a child
with intellectual disability and dysmorphic
features. Gene 498:128-130.
- Wu HH, Lee TH, Chen CD, Yeh
KT, Chen M (2007) Delineation of an isodicentric Y
chromosome in a mosaic
45,X/46,X,idic(Y)(qter-p11.3::p11.3-qter) fetus by
SRY sequencing, G-banding, FISH, SKY and study of
distribution in different tissues. J Formos Med
Assoc 106:403-410.
- Xie YJ, Chen BJ, Wu JZ,
Chen Z, Lin SB, Fang Q (2011) [Combined use of
molecular cytogenetic techniques to detect a small
chromosomal translocation]. Yi Xue Yi Chuan Xue Za
Zhi 28:568-571. Chinese.
- Zhu H, Hu Y, Zhu R, Yang Y,
Zhu X, Wang W (2013) A boy with partial trisomy of
chromosome 3q24-q28 from paternal balanced insertion
and multiple congenital anomalies. Am J Med Genet A
161A:327-330.
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Cryptic rearrangements |
- Abe Y, Tanaka D, Soga T,
Takeuchi T, Iikura Y (2003) A case of de novo distal
duplication of chromosome 15. Clin Genet. 63: 76-78.
- Anderlid BM, Schoumans J,
Anneren G, Sahlen S, Kyllerman M, Vujic M, Hagberg
B, Blennow E, Nordenskjold M (2002) Subtelomeric
rearrangements detected in patients with idiopathic
mental retardation. Am J Med Genet 107: 275-284.
- Bezrookove V, Hansson K,
van der Burg M, van der Smagt JJ, Hilhorst-Hofstee
Y, Wiegant J, Beverstock GC, Raap AK, Tanke H,
Breuning MH, Rosenberg C (2000) Individuals with
abnormal phenotype and normal G-banding karyotype:
improvement and limitations in the diagnosis by the
use of 24-colour FISH. Hum Genet 106: 392-398.
- Clarkson B, Pavenski K,
Dupuis L, Kennedy S, Meyn S, Nezarati MM, Nie G,
Weksberg R, Withers S, Quercia N, Teebi AS, Teshima
I (2002) Detecting rearrangements in children using
subtelomeric FISH and SKY. Am J Med Genet 107:
267-274.
- De Gregori M, Ciccone R,
Magini P, Pramparo T, Gimelli S, Messa J, Novara F,
Vetro A, Rossi E, Maraschio P, Bonaglia MC, Anichini
C, Ferrero GB, Silengo M, Fazzi E, Zatterale A,
Fischetto R, Previderé C, Belli S, Turci A,
Calabrese G, Bernardi F, Meneghelli E, Riegel M,
Rocchi M, Guerneri S, Lalatta F, Zelante L, Romano
C, Fichera M, Mattina T, Arrigo G, Zollino M, Giglio
S, Lonardo F, Bonfante A, Ferlini A, Cifuentes F,
Van Esch H, Backx L, Schinzel A, Vermeesch JR,
Zuffardi O (2007) Cryptic deletions are a common
finding in "balanced" reciprocal and complex
chromosome rearrangements: a study of 59 patients. J
Med Genet 44:750-762
- Fan YS, Siu VM, Jung JH, Xu
J (2000) Sensitivity of multiple color spectral
karyotyping in detecting small interchromosomal
rearrangements. Genet Test 4:9-14.
- Granzow M, Popp S, Keller
M, Holtgreve-Grez H, Brough M, Schoell B,
Rauterberg-Ruland I, Hager HD, Tariverdian G, Jauch
A (2000) Multiplex FISH telomere integrity assay
identifies an unbalanced cryptic translocation
der(5)t(3;5)(q27;p15.3) in a family with three
mentally retarded individuals. Hum Genet 107: 51-57.
- Hemann MT, Strong MA, Hao
LY, Greider CW (2001) The shortest telomere, not
average telomere length, is critical for cell
viability and chromosome stability. Cell 107: 67-77.
- Hsieh LJ, Hsieh TC, Yeh GP,
Lin MI, Chen M, Wang BB (2004) Prenatal diagnosis of
a fetus affected with Down syndrome and deletion
1p36 syndrome by fluorescence in situ hybridization
and spectral karyotyping. Fetal Diagn Ther 19:
356-60.
- Holinski-Feder E, Reyniers
E, Uhrig S, Golla A, Wauters J, Kroisel P, Bossuyt
P, Rost I, Jedele K, Zierler H, Schwab S, Wildenauer
D, Speicher MR, Willems PJ, Meitinger T, Kooy RF
(2000) Familial mental retardation syndrome ATR-16
due to an inherited cryptic subtelomeric
translocation, t(3;16)(q29;p13.3). Am J Hum Genet
66: 16-25.
- Jalal SM, Law ME, Lindor
NM, Thompson KJ, Sekhon GS (2001) Application of
multicolor fluorescent in situ hybridization for
enhanced characterization of chromosomal
abnormalities in congenital disorders. Mayo Clin
Proc 76: 16-21.
- Koseki N, Obara Y, Ookawa
A, Katsumi M, Funato T, Kaku M (2001) [A case of
9p-syndrome identified chromosome 20 on chromosome
9p by M-FISH] Rinsho Byori. 49: 1045-1048. Japanese.
- Leppig KA, Ball S, Au K,
Opheim KE, Norwood T (2000) Familial cryptic (20;21)
translocation identified by in situ hybridization
technologies Am J Med Genet 93:273-277.
- Levy B, Jalal SM, Dunn TM,
Warburton PE, Tonk VS, Hirschhorn K, Lockhart LH,
Hughes T, Velagaleti GV (2002) Unique case of
mosaicism involving two morphologically similar
marker chromosomes of different centric origin in a
patient with developmental delay. Am J Med Genet
108: 198-204.
- Marquez C, Cohen J, Munne S
(1998) Chromosome identification in human oocytes
and polar bodies by spectral karyotyping. Cytogenet
Cell Genet 81: 254-258.
- Morelli SH, Deubler DA,
Brothman LJ, Carey JC, Brothman AR (1999) Partial
trisomy 17p detected by spectral karyotyping. Clin
Genet 55: 372-375.
- Musio A, Mariani T,
Montagna C, Zambroni D, Ascoli C, Ried T, Vezzoni P
(2004) Recapitulation of the Roberts syndrome
cellular phenotype by inhibition of INCENP, ZWINT-1
and ZW10 genes. Gene. 2004 Apr 28;331:33-40.
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