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Borgaonkar DS. Chromosomal Variation in Man: A Catalog of Chromosomal Variants and Anomalies: Online NLM Version [Internet]. Bethesda (MD): National Center for Biotechnology Information (US); 1975-.

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Chromosomal Variation in Man: A Catalog of Chromosomal Variants and Anomalies: Online NLM Version [Internet].

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  • Balkan W, Martin R H: "Segregation of chromosomes into the spermatozoa of a man heterozygous for a 14;21 Robertsonian translocation." AJMG 16:169-172, 1983. [PubMed: 6650563]
    45,XY,t(14q21q).
    Aberration: Robertsonian translocations
    No band
  • Bandyopadhyay R, Heller A, Knox-DuBois C, McCaskill C, Berend S A, Page S L, Shaffer L G.: Parental origin and timing of de novo Robertsonian translocation formation. AJHG 71:1456-1462, 2002. [PMC free article: PMC378592] [PubMed: 12424707]
    Bandyopadhyay R, McCaskill C, Knox-Du Bois C, Zhou Y, Berend S A, Bijlsma E, Shaffer L G.: Mosaicism in a patient with Down syndrome reveals post-fertilization formation of a Robertsonian translocation and isochromosome. AJMG 116A:159-163, 2003. [PubMed: 12494435]
    Berend S A, Page S L, Atkinson W, McCaskill C, Lamb N E, Sherman S L, Shaffer L G.: Obligate short-arm exchange in de novo Robertsonian translocation formation influences placement of crossovers in chromosome 21 nondisjunction. AJHG DOI=0002-9297/2003/7202; 72:, 2003. [PMC free article: PMC379241] [PubMed: 12506337]
    Page S L, Shaffer L G.: Nonhomologous Robertsonian translocations form predominantly during female meiosis. Nature Genet. 15:231-232, 1997. [PubMed: 9054929]
    Page S L, Shin J C, Han J Y, Choo K H A, Shaffer L G.: Breakpoint diversity illustrates distinct mechanisms for Robertsonian translocation formation. Hum. Mol. Genet. 5:1279-1288, 1996. [PubMed: 8872467]
    Shaffer L G, Jackson-Cook C K, Stasiowski B A, Spence J E, Brown J A: Parental origin determination in thiry de novo Robertsonian translocations. AJMG 43:957-963, 1992. [PubMed: 1357969]
    Bandyopadhyay et al demonstrate that common ROBs (13q14q and 14q21q) occur primarily during oogenesis.
    Berend et al (2003) hypothesize that the association between skewed XCI (X chromosome inactivation) and trisomic pregnancies is produced by a common mechanism that underlies both and that involves a reduction of the size of the follicular pool.
    Case 8 in 2003 study=,45,XX,rob(14;21)(q10;q10)/46,XX,i(21)(q10),+21.
    Class 1=rob(13q14q), rob(14q21q).
    More maternally derived de novo translocations (26/30) were found.
    Aberration: TR,IC
    No band
  • Barnicoat A J, Docherty Z, Bobrow M: Where have all the fragile X boys gone? Develop. Med. Child Neurol. 35:532-539, 1993. [PubMed: 7684989]
    45,XX,t(14q22q)mat.&46,XY,14s+/46,XY,21s+ de novo.
    Aberration: TR,MA
    No band
  • Berends M J W, Hordijk R, Scheffer H, Oosterwijk J C, Halley D J J, Sorgedrager N.: Two cases of maternal uniparental disomy 14 with a phenotype overlapping with the Prader-Willi phenotype. AJMG 84:76-79, 1999. [PubMed: 10213052]
    Patient 1:
    45,XX,der t(14q21q)mat
    PWS phenotype was supect in this 7 year old.
    Patient 2:
    45,XY,der(14;14)de novo.
    Aberration: UPD,TR
    MIM#: 176270
    Index Terms: PWS phenotype,Maternal UPD(14)
  • Bolger G B, Stamberg J, Kirsch I R, Hollis G F, Schwarz D F, Thomas G H: "Chromosome translocation t(14;22) and oncogene (c-sis) variant in a pedigree with familial meningioma." NEJM 312:564-567, 1985. [PubMed: 3969118]
    45,XX and XY,t(14q22q).
    Aberration: Robertsonian translocations
    Index Terms: Oncogene
    No band
  • Boue J, Boue A: L''interet en diagnostic prenatal des techniques nouvelles d''identification chromosomique dans des translocations et une aneusomie de recombinaison. La Nouv. Presse Med. 2:3097-3102, 1973. [PubMed: 4595679]
    Boue J, Boue A, Deluchat C, Thepot F: Genetic prognosis of 14-21 translocations in antenatal diagnosis. Lyon Med. 233:207-210, 1975.
    Observation No. 2400 (LA90 and LA92) in this report.
    45,XX and XY,der t(14q21q)mat and pat.&The familial translocation was traced back to four generations. One trisomy 21 situation was found among ten diagnoses made on fetal cells.&t(14q21q).
    Aberration: Robertsonian translocations
    Index Terms: Down syndrome (Trisomy 21)
    No band
  • Boue J, Daketse M J, Deluchat C, Ravise N, Yvert F, Boue A: Q and G banding techniques in the identification of chromosome anomalies in spontaneous abortions. Ann. Genet. 19:233-239, 1976. [PubMed: 1087852]
    46,XX,-14,+t(14q14q).
    Aberration: Robertsonian translocations
    Index Terms: Fetal wastage (Habitual recurrent, spontaneous abortion)
    No band
  • Buhler E M: Unmasking of heterozygosity by inherited balanced translocations. Implications for prenatal diagnosis and gene mapping. Ann. Genet. 26:133-137, 1983. [PubMed: 6606374]
    Case 3 (M. J.).
    t(14q;17q)mat.
    Patient had Pierre-Robin syndrome.
    Aberration: Whole-arm translocations
    MIM#: 261800
    Index Terms: Pierre Robin syndrome
    No band
  • Calabrese G, Stuppia L, Mingarelli R, Guanciali Franchi P, Peila R, Morizio E, Antonucci A, Palka G.: Molecular characterization of two extra marker chromosomes detected at prenatal diagnosis. Ann. Genet. 37:135-138, 1994. [PubMed: 7847794]
    Case 1, T.E.:
    47,XY,+mar(14/22)de novo.
    Follow up of the baby at 6 and 12 months was unremarkable.
    The extra chromosome was bisatellited, metacentric. Alu I banding showed no heterochromatic material, but was NOR positive and DA/DAPI negative. FISH with alpha-satellite probe specific for chromosomes 14 and 22 showed a bright signal in the centromeric region.
    No band
  • Callen D F, Eyre H J, Ringenbergs M L, Freemantle C J, Woodroffe P, Haan E A: Chromosomal origin of small ring marker chromosomes in man: characterization by molecular genetics. AJHG 48:769-782, 1991. [PMC free article: PMC1682952] [PubMed: 2014800]
    Case 7.
    mos47,XX,+21(55%)/48,XX,+21,+r(14)(45%).
    Down syndrome.
    Aberration: Ring chromosome
    No band
  • Caspersson T, Hulten M A, Lindsten J, Therkelsen A J, Zech L: Identification of different Robertsonian translocations in man by quinacrine mustard fluorescence analysis. Hereditas 67:213-220, 1971. [PubMed: 4142007]
    Case 6 in this report.
    45,XY,t(14q14q).
    Cases 1, 2 and 4 in this report.
    45,XY,t(14q21q).
    Aberration: Robertsonian translocations
    No band
  • Cheung S W, Kolacki P L, Watson M S, Crane J P: Prenatal diagnosis, fetal pathology, and cytogenetic analysis of mosaic trisomy 14. Prenat. Diag. 8:677-682, 1988. [PubMed: 3211857]
    Blood:mos46,XX/46,XX,-14,+i(14q).&Amniotic fluid:mos46,XX/46,XX,-14,+i(14q).
    Patient had multiple congenital anomalies and died 4 months after birth. The mosaic state of trisomy was detected after birth(37%). Upon reexamination of amniotic fluid cultures the trisomic cell line was found in one of 12 colonies.
    Aberration: Isochromosome
    Chromosomal Aneuploidy: 14+
    No band
  • Choo K H: Role of acrocentric cen-pter satellite DNA in Robertsonian translocation and chromosomal non-disjunction. Mol. Biol. Med. 7:437-449, 1990. [PubMed: 2095460]
    No band
  • Chrz R, Kozak J, Malkova J: Densitometric study of G bands of human metaphase chromosomes. Humangenetik 18:149-154, 1973. [PubMed: 4720041]
    t(14q21q).
    Aberration: Robertsonian translocations
    No band
  • Chu C, Schwartz S, McPherson E.: Paternal uniparental isodisomy for chromosome 14 in a patient with a normal 46,XY karyotype. AJMG DOI=10.1002/ajmg.a.20618;127A:167-171, 2003 and 2004. [PubMed: 15108205]
    Amnio and newborn blood=46,XY.(patUPD14)
    Polyhydramnios and short fetal limbs were noted on ultrasound. The newborn, with MCA, was referred for suspected Jeune''s asphyxiating thoracic dystrophy.
    Aberration: Uniparental disomy
  • Collins M K L, Goodfellow P N, Spurr N K, Solomon E, Tanigawa G, Tonegawa S, Owen M J: The human T-cell receptor alpha-chain gene maps to chromosome 14. Nature 314:273-274, 1985. [PubMed: 3838574]
    MIM#: 186880
    No band
  • Cox H, Bullman H, Temple I K.: Maternal UPD(14) in the patient with a normal karyotype: clinical report and a systematic search for cases in samples sent for testing for Prader-Willi syndrome. AJMG DOI=10.1002/ajmg.a.20611;127A:21-25, 2003 and 2004. [PubMed: 15103712]
    46,XX,upd(14)mat.
    The 5 year old patient was referred for evaluation because of developmental delay.
    Molecular tests ruled out PWS and she was karyotyped as 46,XX. A minority of cells had an additional paternally derived 14 not detectable even by FISH.
    Aberration: Uniparental disomy
  • Crolla J A, Dennis N R, Jacobs P A: A non-isotopic in situ hybridisation study of the chromosomal origin of 15 supernumerary marker chromosomes in man. J. Med. Genet. 29:699-703, 1992. [PMC free article: PMC1016126] [PubMed: 1433228]
    Cases 7 and 8.
    mos46,XY/47,XY,+mar(14)de novo.
    Attempt has been made to correlate the physical findings with the chromosomal abnormality.
    No band
  • Curtis L, Antonelli E, Vial Y, Rimensberger P, Le Merrer M, Hinard C, Bottani A, fokstuen S.: Prenatal diagnostic indicators of paternal uniparental disomy 14. Prenat. Diag. 26: 662-666, 2006. [PubMed: 16715538]
    46,XY,upd(14)pat.
    Prognosis is poor because of severe respiratory insufficiency and neruodevelopmental retardation.,A 37 year old mother was referred because of polyhydramnios and sus[icion of fetal skeleta; dysplasia. This patient died at 9 months (care withdrawn).
    These authors claim that a combination with a small bell-shaped thorax and polyhydramnios at routine prenatal ultrasonography makes it possible to consider pat UPD14.
    Aberration: Uniparental disomy
  • Daniel A, Malafiej P.: A series of supernumerary small ring marker autosomes identified by FISH with chromosome probe arrays and literature review excluding chromosome 15. AJMG 117A:212-222, 2003. [PubMed: 12599184]
    Case 5=47,XY,+r(14)[90%]/46,XY.
    Developmental delay in a 8 year old male, moderately MR, hypotonia, speech delay, and dribbling.
    Aberration: Ring chromosome
  • Darlington G J, Astrin K H, Muirhead S P, Desnick R J, Smith M: Assignment of human alpha-1 antitrypsin to chromosome 14 by somatic cell hybrid analysis. PNAS 79:870-873, 1982. [PMC free article: PMC345854] [PubMed: 6801664]
    MIM#: 107400
    No band
  • Dietz L G, Wylie A A, Rauen K A, Murphy S K, Jirtle R L, Cotter P D.: Exclusion of maternal uniparental disomy of chromosome 14 in patients referred for Prader-Willi syndrome using a multiplex methylation polymerase chain reaction assay. J. Med. Genet. 40:e46, 2003. [PMC free article: PMC1735412] [PubMed: 12676919]
    No upd(14)mat was found in 200 patients studied by Dietz et al.

    Hordijk R, Wierenga H, Scheffer H, Leegte B, Hofstra R M W, Stolte-Dijkstra I.: Maternal uniparental disomy for chromosome 14 in a boy with a normal karyotype. J. Med. Genet. 36:782-785, 1999. [PMC free article: PMC1734247] [PubMed: 10528860]
    46,XY,upd(14)mat
    The 7 yo patient was referred because of PWS features. He showed short stature, obesity, mild developmental delay, cryptorchidism, and some mild dysmorphic features.
    Aberration: Uniparental disomy
  • Dutrillaux B: Chromosomal aspects of human male sterility. Nobel Symposium 23:205-208, 1972. [PubMed: 4804750]
    45,XY,t(14q21q).
    Aberration: Robertsonian translocations
    Index Terms: Sterility ... male
    No band
  • Eggermann T, Mergenthaler S, Eggermann K, Albers A, Linnemann K, Fusch C, Ranke M B, Wollmann H A.: Identification of interstitial maternal uniparental disomy (UPD)(14) and complete maternal UPD(20) in a cohort of growth retarded patients. JMG 38:86-89, 2001. [PMC free article: PMC1734807] [PubMed: 11158171]
    Eggermann T, Zerres K, Eggermann K, Moore G, Wollmann H A.: Uniparental disomy: clinical indications for testing in growth retardation. Europ. J. Pediat. 161:305-312, 2002. [PubMed: 12029448]
    In patients showing growth retardation, precocious puberty, developmental delay, hypotonia, small hands and joint laxity, screening for UPD14 should be performed.
    Case 1
    46,XY,upd(14)(q13q31)mat
    The patient, referred for UPD testing because of some features of SRS, died at the age of 6 months from aspiration pneumonia.
    Aberration: Uniparental disomy
    No band
  • Gafter V, Kessler E, Shabtay F, Shaked P, Djaldetti M: Abnormal chromosomal marker (D14q+) in a patient with alpha heavy chain disease. J. Clin. Path. 33:136-144, 1980. [PMC free article: PMC1146008] [PubMed: 6767755]
    Index Terms: Alpha heavy chain disease
    No band
  • Gentile M, Susca F, Resta N, Stella A, Cascone A, Guanti G: Infertility in carriers of two bisatellited marker chromosomes. Clin. Genet. 44:71-75, 1993. [PubMed: 8275562]
    Case 1:
    48,XY,+2mar(14pter->14cen:: ?)
    Patient was 26 years old with 4 years of infertility.
    Index Terms: Infertility
    No band
  • Gilgenkrantz S, Groupe de Cytogeneticiens Francais: Robertsonian translocations and abnormal phenotypes. Ann. Genet. 32:5-9, 1989. [PubMed: 2665630]
    t(14q21q).
    Data on 2 cases are reviewed.
    Aberration: Robertsonian translocations
    No band
  • Golbus M S, Epstein C J, Aronson M M, Greene A E, Coriell L L: "A (14;15) Robertsonian translocation, 45 chromosomes. Repository identification No. GM-479." Cytogenet. Cell Genet. 17:61, 1976. [PubMed: 949908]
    45,XX,t(14q15q).
    Aberration: Robertsonian translocations
    No band
  • Gracias-Espinal R, Roberts S H, Duckett D P, Lawrence K M: Recurrent spontaneous abortions due to a homologous Robertsonian translocation (14q14q). J. Med. Genet. 19:465-467, 1982. [PMC free article: PMC1048965] [PubMed: 7154046]
    One abortus had 46,XX,-14,+der t(14q14q)mat karyotype.
    Aberration: Robertsonian translocations
    Index Terms: Fetal wastage (Habitual recurrent, spontaneous abortion),Homologous Robertsonian translocation
    No band
  • Grati F R, Grimi B, Frascoli G, Di Meco A M, Liuti R, Milani S, Trotta A, Dulcetti F, Grosso E, Miozzo M, Maggi F, Simoni G.: Confirmation of mosaicism and uniparental disomy in amniocytes, after detection of mosaic chromosome abnormalities in chorionic villi. Europ. J. Hum. Genet. DOI=10.1038/sj/ejhg.5201564, 2006. [PubMed: 16418738]
    Aberration: Uniparental disomy
    Index Terms: CPM in CVS and UPD
  • Gravholt C H, Friedrich U.: Molecular cytogenetic study of supernumerary marker chromosomes in an unselected group of children. AJMG 56:106-111, 1995. [PubMed: 7747772]
    Four cases: 40, 28239, 32830, and 41934:
    47,XX,+mar; mos46,XY/47,XY,+mar; 47,XY,+mar, and mos46,XY/47,XY,+mar respectively.
    Normal appearance in all cases.
    No band
  • Gualandi F, Sensi A, Calabrese O, Gruppioni R, Pittalis M C, Calzolari E.: Prenatal exclusion of UPD from cytogenetic slides: a simple method. Prenat. Diag. 19:87-88, 1999. [PubMed: 10073917]
    Case 1: rob(13;14)de novo
    upd(14) was ruled out by use of several STS markers.
    Aberration: Robertsonian translocations
    Index Terms: UPD
  • Healey S, Powell F, Battersby M, Chenevix-Trench G, McGill J: Distinct phenotype in maternal uniparental disomy of chromosome 14. AJMG 51:147-149, 1994. [PubMed: 8092191]
    45,XX,t(13q14q)de novo.
    The 4 year old had arrested hydrocephalus, short stature, small hands with hyperextensible joints, and developmental delay.
    Aberration: Uniparental disomy
    Index Terms: UPD
    No band
  • Heyman A, Wilkinson W E, Hurwitz B J, Schmechel D, Sigmon A H, Weinberg T, Helms M J, Swift M R: Alzheimer''s disease: genetic aspects and associated clinical disorders. Ann. Neurol. 14:507-515, 1983. [PubMed: 6228188]
    St George Hyslop P: Personal communication December 16, 1992.
    68 patients with AD were studied.
    Proband-45,XY,t(14q21q) with AD.&46,XY,-14,+21,der t(14q21q)mat.
    Original paper of Heyman et al mentions the translocation as 15q21q but subsequent work by St George-Hyslop et al (1992) shows this translocation to be 14q21q. This correct identification among other things led the gene chasers of FAD to work with chromosome 14 simple sequence repeats.
    A number of Down syndrome patients, 3.6/1,000 as compared to 1.3/1,000 were encountered in the families with FAD.
    Aberration: Robertsonian translocations
    Index Terms: Alzheimer,Down syndrome
    No band
  • Howard P J, Fielding D W: Robertsonian translocation and an extra microchromosome: aetiology and effect on meiotic segregation. Clin. Genet. 32:57-60, 1987. [PubMed: 2957127]
    Walters J J, Howard P J: Robertsonian translocation and extra microchromosome. Clin. Genet. 34:140-144, 1988. [PubMed: 3191608]
    46,XX,-14,-21,+t(14q21q),+dic(15)(pter -> q11.2 or q12::q11.2 or q12 -> pter).
    Recent work (1988) describes the abnormality more accurately.
    Aberration: Robertsonian translocations
    No band
  • Ioan D M, Dumitriu L, Museteanu P, Ioanitiu D, Pop T, Maximilian C: Cytogenetic investigation in 300 couples with recurrent fetal wastage. Romanian J. Med. 25:145-148, 1987. [PubMed: 3685845]
    45,XX,-14,-14,+t(14q14q).
    Aberration: Robertsonian translocations
    No band
  • Same entry as in 060000,130000 (Jacobs et al, 1974).
  • Jacobs P A, Buckton K E, Cunningham C, Newton M S: An analysis of the break points of structural rearrangements in man. J. Med. Genet. 11:50-64, 1974. [PMC free article: PMC1013088] [PubMed: 4134839]
    Tierney I, Axworthy D, Smith L, Ratcliffe S G: Balanced rearrangements of the autosomes: results of a longitudinal study of a newborn survey population. J. Med. Genet. 21:45-51, 1984. [PMC free article: PMC1049205] [PubMed: 6694184]
    M. R. C. Registry Nos. K1-84-61, K152-86-61, K6-73-62, K33-52-67, 157-221-70 and K168-279-70 in this report.
    46,XY,-14+t(14q21q).
    M. R. C. Registry Nos. K2-85-61, K169-213-68 and K165-175-69 in this report.
    46,XX,-14,+t(14q21q).
    M. R. C. Registry Nos. K71-197-68, K130-92-68, K107-10-71 and K159-173-71 in this report.
    45,XX,t(14q21q).
    M. R. C. Registry No. K141-107-71 in this report.
    45,XY,t(14q22q).
    M. R. C. Registry No. K217-228-72 in this report.
    45,XY,t(14q15q).
    M. R. C. Registry No. K61-96-69 in this report.
    45,XY,t(14q21q).
    Aberration: Robertsonian translocations
    No band
  • Jenkins M B, Kriel R L, Boyd L: Trisomy 14 mosaicism in a translocation 14q15q carrier: Probable dissociation and isochromosome formation. J. Med. Genet. 18:68-71, 1981. [PMC free article: PMC1048663] [PubMed: 7253003]
    mos 45,XX,t(14q15q)/46,XX,iso(14q).
    Patient was 10 years old with severe developmental retardation, failure to thrive, and somatic abnormalities including skeletal asymmetry, high arched or cleft palate, and low set dysplastic ears.
    Aberration: Isochromosome
    Index Terms: Cleft lip/palate,Developmental retardation,Ears ... low-set,Ears ... dysplastic,Palate ... high arched
    No band
  • Kehrer-Sawatzki H, Wohr G, Schempp W, Eisenbarth I, Barbi G, Assum G.: Mapping of members of the low-copy-number repetitive DNA sequence family chAB4 within the p arms of human acrocentric chromosomes: characterization of Robertsonian translocations. Chromosome Res. 6:429-435, 1998. [PubMed: 9865780]
    Probands B7472 and B7211=45,XX and XY,rob(14q21q).,Probands H277, B7819, and B7927=45,XX or XY,rob(13q14q).,Probands H113, WH, and GW=45,XX or XY,rob(21q22q).
    chAB4 sequence is found only on 22. Other probes used were alphaXT, L1.26, alphaB10, JoG6, and pTRS-47.
    Aberration: Robertsonian translocations
    Index Terms: chAB4 DNA sequence
  • Kennerknecht I, Barbi G, Wolf M, Djalali M, Grab D, Terinde R, Vogel W: Cytogenetic diagnoses after chorionic villus sampling are less reliable in very-high or very-low-risk pregnancies. Prenat. Diag. 13:929-944, 1993. [PubMed: 8309900]
    46,XX,-14,+der(14),t(14;17)(14p17q;14q17p)pat.
    Indication was a parental translocation and the pregnancy was terminated.
    Aberration: Whole-arm translocations
    Chromosomal Aneuploidy: 17p+
    Index Terms: CVS
    No band
  • Kotzot, D.: Complex and segmental uniparental disomy updated. J. Med. Genet. 45: 545-556, 2008. [PubMed: 18524837]
    Kotzot D.: Maternal uniparental disomy 14 dissection of the phenotype with respect to rare autosomal recessively inherited traits, trisomy mosaicism, and genomic imprinting. Ann. Genet. 47:251-260, 2004. [PubMed: 15337470]
    A review.
    Aberration: Uniparental disomy
  • Kovaleva N V.: Research review: Nonmosaic balanced homologous translocations of major clinical significance: some may be mosaic. AJMG Part A: 143A: 2843-2850, 2007. [PubMed: 17975800]
    Robinson W P, Bernasconi F, Basaran S, Yuksel-Apak M, Neri G, Serville F, Balicek P, Haluza R, Farah L M S, Luleci G, Schinzel A A: A somatic origin of homologous Robertsonian translocations and isochromosomes. AJHG 54:290-302, 1994. [PMC free article: PMC1918173] [PubMed: 8304346]
    Case 8:
    45,XY,-14,-14,+t(14q14q).
    Patient was 2 years 9 months old and was studied because of motor retardation and mild MR. Maternal UPD (14) was found.
    Aberration: TR,IC,UPD
    Index Terms: UPD
    No band
  • Kurosawa K, Sasaki H, Sato Y, Yamanaka M, Shimizu M, Ito Y, Okuyama T, Matsuo M, Imaizumi K, Kuroki Y, Nishimura G.: Paternal UPD14 is responsible for a distinctive malformation complex. AJMG 110:268-272, 2002. [PubMed: 12116236]
    Patient 1=46,XX,upd(14)pat.,Patient 2=46,XY,upd(14)pat.,Patient 3=45,XX,der rob t(13q14q)pat,upd(14)pat.
    All three patients were referred to G.N. for radiological consultation: findings were a narrow thorax with short wavy ribs and mild hypoplasia of the ilia. Severe respiratory failure that required mechanical ventilation was common to all three cases. Facial dysmorphism included short palpebral fissures, protruding philtrum and retrognathia. Short limbs and polyhydramnios were also present.
    Aberration: UPD,TR
  • Lai E C, Kao F T, Law M L, Woo S L C: Assignment of the alpha-1-antitrypsin gene and a sequence-related gene to human chromosome 14 by molecular hybridization. AJHG 35:385-392, 1983. [PMC free article: PMC1685635] [PubMed: 6602546]
    MIM#: 107400
    No band
  • Lange R, Johannson G, Engel W: Chromosome studies in in-vitro fertilization patients. Hum. Reprod. 8:572-574, 1993. [PubMed: 8501188]
    45,XY,t(14q21q).
    The man had asthenoteratozoospermia.
    Index Terms: IVF,Asthenoteratozoospermia
    No band
  • Lejeune J: Personal communication, 1976.
    Turpin R, Lejeune J, Lafourcade J, Gautier M: Aberrations chromosiques et maladies humaines. La polydysspondylie a 45 chromosomes. C. R. Acad. Sci. 248:3636-3638, 1959. [PubMed: 13671780]
    Subject No. 654 of 1959 and No. 12,965 of 1973.
    45,XY,t(14q21q).&This case report appears to be the first one documenting the existence of chromosome translocation in man.
    Aberration: Robertsonian translocations
    No band
  • Lubs H A, Ruddle F H: Chromosomal abnormalities in the human population: estimation of rates based on New Haven newborn study. Cytogenet. Cell Genet. 12:368-369, 1970,1973. [PubMed: 5424797]
    45,XX,t(14q22q).
    Aberration: Robertsonian translocations
    No band
  • Maeda T, Ohno M, Takada M, Matsunobu A, Arai M: Postzygotic D/D translocation homozygosity associated with recurrent abortions. AJMG 15:389-392, 1983. [PubMed: 6881208]
    Case 1.
    45,XY,t(14q14q).
    Aberration: Robertsonian translocations
    Index Terms: Fetal wastage (Habitual recurrent, spontaneous abortion)
    No band
  • Manzoni M F, Pramparo T, Stroppolo A, Chiaino F, Bosi E, Zuffardi O, Carrozzo R.: A patient with maternal chromosome 14 UPD presenting with a mild phenotype and MODY. Clin. Genet. 57:406-408, 2000. [PubMed: 10852378]
    Patient was 19 years old.
    45,XY,der(14;14)(q10;q10).
    Aberration: Uniparental disomy
    MIM#: 176730
    Index Terms: Maturity onset diabetes of the young (MODY)
  • Mattes J, Whitehead B, Liehr T, Wilkinson I, Bear J, Fagan K, Craven P, Bennetts B, Edwards M.: Paternal uniparental isodisomy for chromosome 14 with mosaicism for a supernumerary marker chromosome 14. AJMG Part A: DOI=10.1002/ajmg.a.31896, 2007. [PubMed: 17702046]
    47,XX,+mar(14)[44].ish der(14/22;D14Z1/D22Z1)/46,XX[6].
    Patient demonstrated a small thorax, kyphoscoliosis, and a facial appearance.
    Aberration: Uniparental disomy
  • Meyer-Robisch M, Schwanitz G: Familial D/E translocation. Acta Genet. Med. Gemellol. 16:365-375, 1967. [PubMed: 5593928]
    Schwanitz G, Hagele C, Schmid P: Follow-up investigation of a familial translocationn 14/18. Acta Genet. Med. Gemellol. 26:176, 1977. [PubMed: 596114]
    46,XY,t(14;18)(p or q11;p or q11).&The couple has had 2 children, who died 10 weeks and 6 days after birth respectively.
    Aberration: Whole-arm translocations
    No band
  • Mikkelsen M: Non-random involvement of acrocentric chromosomes in human Robertsonian translocations. Chromosomes Today 4:253-259, 1973.
    No band
  • Mitter D, Buiting K, von Eggeling F, Kuechler A, Liehr T, Mau-Holzmann U A, Prott E-C, Wieczorek D, Gillessen-Kaesbach G.: Is there a higher incidence of maternal uniparental disomy 14 [upd(14)mat]? Detection of 10 new patients by methylation-specific PCR. AJMG Part A: 10.1002/ajmg.a.31414, 2006. [PubMed: 16906536]
    Patient 1=45,XY,t(14;21)dn.,Patient 2=45,der t(13;14).,Patients 3 and 7=47,XY,+mar(14).,Patients 4, 5, and 9=46,X(X/Y).,Patient 6=46,XY[91%]/45,X[9%].
    Aberration: Uniparental disomy
  • Morgan R, Bixenman H, Hecht F: Human chromosome variation with two Robertsonian translocations. Hum. Genet. 69:178-180, 1985. [PubMed: 3156085]
    An individual with 44 chromosomes was found.
    mos44,XX,t(14q21q),t(14q22q)/45,XXX,t(14q21q),t(14q22q).&t(14q21q) and t(14q22q) were familial translocations.
    Aberration: Robertsonian translocations
    No band
  • Neu R L, Valentine F A, Gardner L I: Segregation of a t(14q22q) chromosome in a large kindred. Clin. Genet. 8:30-36, 1975. [PubMed: 1149319]
    45,XX and XY,t(14q22q).&45,XX and XY,der t(14q22q)mat and pat.&"A large kindred in which 21 members from three generations are balanced carriers is reported. All eight sibs in one generation were carriers for the translocation. The father himself a product of second cousin marriage ""may have been"" homozygous for the translocation chromosome."
    Aberration: Robertsonian translocations
    No band
  • Ning Y, Laundon C H, Schrock E, Buchanan P, Ried T.: Prenatal diagnosis of a mosaic extra structurally abnormal chromosome by spectral karyotyping. Prenat. Diag. 19:480-482, 1999. [PubMed: 10360520]
    mos47,XY,+mar[33%]/46,XY in amniotic fluid.,mos47,XY,+mar[6]/46,XY[14] in postnatal blood.,The ESAC was identified by SKY and FISH as a r(14).
    The infant did not have dysmorphic features and is developing normally at 6 months of age.
    Aberration: Ring chromosome
    Index Terms: ESAC
  • Ozawa N, Xu Z D, Soh K I, Takabayashi T, Sato S, Yajima A, Suzuki M, Ikeuchi T, Tonomura A: A case of mosaic trisomy 14 due to an isochromosome, i(14q). Jpn. J. Hum. Genet. 29:69-76, 1984. [PubMed: 6748330]
    mos46,XY/46,XY,-14,+i(14q).
    Aberration: Isochromosome
    No band
  • Pangalos C, Velissariou V, Ghica M, Liacacos D: Ring-14 and trisomy 14q in the same child. Ann. Genet. 27:38-40, 1984. [PubMed: 6609671]
    Patient, 170479.
    46,XY,r(14)/46,XY,t(14q14q).
    Aberration: TR,RI
    No band
  • Papenhausen P R, Mueller O T, Johnson V P, Sutcliffe M, Diamond T M, Kousseff B G.: Uniparental isodisomy of chromosome 14 in two cases: an abnormal child and a normal adult. AJMG 59:271-275, 1995. [PubMed: 8599348]
    Papenhausen P R, Mueller O T, Sutcliffe M, Diamond T M, Kousseff B G, Johnson V P. : Uniparental isodisomy of chromosome 14 in two cases: an abnormal child and a normal adult. AJMG 66:90, 1996. [PubMed: 8957521]
    The primary authors concluded in 1996 "it is much more likely that the translocation is an isochromosome".

    Penman Splitt M, Goodship J A.: Another case of maternal uniparental disomy chromosome 14 syndrome. AJMG 72:239-240, 1997. [PubMed: 9382150]
    Robinson W P, Langlois S.: Phenotype of maternal UPD(14). AJMG 66:89, 1996. [PubMed: 8957520]
    Drs. Penman Splitt and Goodship''s case:45,XX,t(14q14q).
    The proposita was 26 years old with short stature and normal intelligence.
    Patient 1:
    45,XX,t(14q14q)de novo.
    The infant, 20 months old, had puckered lips, hairy forehead, retrognathia, and hypotonia.
    Patient 2:
    45,XX,t(14q14q).
    This 30 year old had G4Ab4 pregnancy history. All of the miscarriages occurred at 6 to 8 weeks.
    Aberration: IS,UPD
    Index Terms: UPD
  • Pentao L, Lewis R A, Ledbetter D H, Patel P I, Lupski J R: Maternal uniparental isodisomy of chromosome 14: association with autosomal recessive rod monochromacy. AJHG 50:690-699, 1992. [PMC free article: PMC1682625] [PubMed: 1347967]
    Patient HOU 120-489.
    46,XX,rob(14;14).
    Patient was 20 years old, with short stature, mild developmental delay and minor dysmorphism, rod monochromacy, and history of miscarriages.
    Aberration: IS,TR
    MIM#: 216900
    Index Terms: Isodisomy,Rod monochromacy
  • Prasher V P: Presenile dementia associated with unbalanced Robertsonian translocation form of Down''s syndrome. Lancet 342:686-687, 1993. [PubMed: 8103177]
    46,XY,-14,+t(14q21q).
    Patient was a 53-year-old man with memory loss.
    Aberration: Robertsonian translocations
    MIM#: 104300
    Index Terms: Dementia ... Presenile
    No band
  • Ralph A, Scott F, Tiernan C, Caubere M, Kollegger S, Junio J, Roberts C, Ewen K, Slater H R.: Maternal uniparental isodisomy for chromosome 14 detected prenatally. Prenat. Diag. 19:681-684, 1999. [PubMed: 10419621]
    cvs=mos47,XX,+14[13]/46,XX[18].,amniocytes=mos47,XX,+14[2]/46,XX[30].
    Fetus showed no apparent pathological features but died in utero at 18 weeks.
    Aberration: Uniparental disomy
  • Rosemann A, Wahrman J, Richler C, Voss R, Persitz A, Goldman B: Meiotic association between the XY chromosomes and unpaired autosomal elements as a cause of human male sterility. Cytogenet. Cell Genet. 39:19-29, 1985. [PubMed: 3979116]
    45,XY,t(14q21q).
    Aberration: Robertsonian translocations
    Index Terms: Sterility ... male
    No band
  • Rousseaux S, Chevret E, Monteil M, Cozzi J, Pelletier R, Delafontaine D, Sele B.: Sperm nuclei analysis of a Robertsonian t(14q21q) carrier, by FISH, using three plasmids and two YAC probes. Hum. Genet. 96: 655-660, 1995. [PubMed: 8522322]
    Aberration: Robertsonian translocations
    Index Terms: Sperm ... nuclei
    No band
  • Sanlaville D, Aubry M C, Dumez Y, Nolen M C, Amiel J, Pinson M P, Lyonnet S, Munnich A, Vekemans M, Morichon-Delvallez N.: Maternal uniparental heterodisomy of chromosome 14: chromosomal mechanism and clinical follow up. J. Med. Genet. 37:525-528, 2000. [PMC free article: PMC1734622] [PubMed: 10882756]
    Aberration: Uniparental disomy
    No band
  • Sarkar S, Jones O W, Shioura N: Population heterogeneity in human sperm DNA content of translocation carriers. Clin. Res. 23:131A, 1975.
    45,XY,t(14q21q).
    Aberration: Robertsonian translocations
    No band
  • Schmid M, Schmidtke J, Kruse K, Tolksdorf M: Characterization of a Y/15 translocation by banding methods, distamycin A treatment of lymphocytes and DNA restriction endonuclease analysis. Clin. Genet. 24:234-239, 1983. [PubMed: 6315280]
    45,XY,t(14q21q),t(Y;15)mat.&"46,XX,1qh+,t(Y;15) enlarged 15p was shown to be Yq."
    Aberration: Robertsonian translocations
    No band
  • Shaffer L G, McCaskill C, Adkins K, Hassold T J.: Systematic search for uniparental disomy in early fetal losses: the results and a review of the literature. AJMG 79:366-372, 1998. [PubMed: 9779803]
    Sutton V R, McAlister W H, Bertin T K, Kaffe S, Wang J-C C, Yano S, Shaffer L G, Lee B, Epstein C J, Villar A J.: Skeletal defects in paternal uniparental disomy for chromosome 14 are re-capitualted in the mouse model (paternal uniparental disomy 12). Hum. Genet. 113:447-451, 2003. [PubMed: 12938037]
    Sutton V R, Shaffer L G.: Search for imprinted regions on chromosome 14: comparison of maternal and paternal UPD cases with cases of chromosome 14 deletion. AJMG 93:381-387, 2000. [PubMed: 10951461]
    Temple I K, Cockwell A, Hassold T J, Pettay D, Jacobs P A: Maternal uniparental disomy for chromosome 14. J. Med. Genet. 28:511-514, 1991. [PMC free article: PMC1016977] [PubMed: 1681108]
    No case of a UPD for any chromosome was found in the 18 fetuses studied in 1998.
    Sutton and Shaffer conclude that 14q23-32 is likely an area where imprinted genes may reside. Sutton et al (2003) hypothesize that there is an imprinted gene(s) on HSA14/MMU12 that specifically affects rib/thorax development and the maturation of ossification centers in the sternum, feet and skull .
    45,XY,rob(13q14q).
    The 17 year-old-patient was of above average intelligence, had hydrocephalus, a bifid uvula, premature puberty, short stature, and small testes.
    Aberration: TR,UPD
    Index Terms: Maternal ... uniparental disomy, UPD,Hydrocephalus,Bifid uvula
    No band
  • Shiono H: Cases observed. Hum. Genet. 57:335, 1981. [PubMed: 28035503]
    46,XY,-14,+t(14q21q). One of the two twins had this chromosome make-up.
    No band
  • Silverstein S, Lerer I, Sagi M, Frumkin A, Ben-Neriah Z, Abeliovich D.: Uniparental disomy in fetuses diagnosed with balanced Robertsonian translocations: risk estimate. Prenat. Diag. 22: 649-651, 2002. [PubMed: 12210570]
    42 fetuses with non-homologous Robertsonian translocations were analyzed for UPD.
    t(13q14q).upd(14)mat.
    It is recommended that UPD screening be done in families with Robertsonian translocations.
    Aberration: TR,UPD
  • Stetten G, Blakemore K J, Courter A M, Coss C A, Jabs E W: Prenatal identification of small mosaic markers of different chromosomal origins. Prenat. Diag. 12:83-91, 1992. [PubMed: 1372733]
    Case 1.
    47,XY,+marker 14.
    Clinical outcome was normal.
    Index Terms: Small marker chromosomes
    No band
  • Sullivan B A, Jenkins L S, Karson E M, Leana-Cox J, Schwartz S.: Evidence for structural heterogeneity from molecular cytogenetic analysis of dicentric Robertsonian translocations. AJHG 59:167-175, 1996. [PMC free article: PMC1915107] [PubMed: 8659523]
    Wolff D J, Schwartz S: Characterization of Robertsonian translocations by using fluorescence in situ hybridization. AJHG 50:174-181, 1992. [PMC free article: PMC1682527] [PubMed: 1729886]
    t(14q15q), t(14q21q), t(14q22q).
    Aberration: Robertsonian translocations
    No band
  • Tomkins D J, Roux A F, Waye J, Freeman V C P, Cox D W, Whelan D T.: Maternal uniparental isodisomy of human chromosome 14 associated with a paternal t(13q14q) and precocious puberty. Europ. J. Hum. Genet. 4:153-159, 1996. [PubMed: 8840115]
    Proband:45,XY,i(14q14q);,Father and a brother:45,XY,t(13q14q).
    The proband was referred for chromosomal testing at 9 years of age because of precocious development and to rule out fragile X. He was negative for fra(X)(q27.3). Some of the features of maternal UPD 14 syndrome are hypotonia and motor developmental delay, mild dysmorphic facial features, low birth weight and growth abnormalities and precocious puberty.
    Aberration: IS,UPD,TR,IC
    Index Terms: Maternal ... uniparental disomy, UPD
  • Towner D R, Shaffer L G, Yang S P, Walgenbach D D.: Confined placental mosaicism for trisomy 14 and maternal uniparental disomy in association with elevated second trimester maternal serum human chorionic gonadotrophin and third trimester fetal growth restriction. Prenat. Diag. 21:395-398, 2001. [PubMed: 11360282]
    Amniocentesis=46,XX[15].,Placenta=47,XX,+14[20].,Blood=46,XX[50].
    The 40 year old woman had declined amniocentesis for advanced maternal age. The child at age 2 years shows growth retardation and has developed skin pigmentation.
    Aberration: Uniparental disomy
  • Tsukishiro S, Li Q Y, Tanemura M, Sugiura-Ogasawara M, Suzumori K, Sonta S-I.: Paternal uniparental disomy of chromosome 14 and unique exchange of chromosome 7 in cases of spontaneous abortion. J. Hum. Genet. 10.1007/s10038-005-0229-9, 2005. [PubMed: 15747166]
    Case 107:46,XX,upd(7q distal one third)mat.
    This was the first pregnancy of a 36 year old woman and her husband was 37. Fetal heartbeat stopped during the seventh week and abortion at 7w5d.
    164 cases of abortion were studied. 83 had chromosomal abnormalities.
    Case 35:46,XX,upd(14)pat
    This was the first pregnancy of a 32 year old woman and her spouse was 34. Heart beat stopped at the 8th week and abortion was at 8w5d.
    Meiotic I nondisjunction is hypothesized with a crossover at a point about two thirds of the long arm away from the centromere. .
    Aberration: Uniparental disomy
  • Turleau C, de Grouchy J, Cornu A, Turquet M, Millet G: Mosaic trisomy 14 due to an iso dicentric chromosome. Ann. Genet. 23:238-240, 1980. [PubMed: 6971604]
    Patient, 030180, died after one week.
    mos 46,XY/46,XY,-14,+i(14q).
    Aberration: Isochromosome
    No band
  • Wahlstrom J: Three cases of minor chromosomal aberrations discovered by prenatal chromosome determination. Humangenetik 27:223-225, 1975. [PubMed: 1150241]
    46,XY,t(14;22).
    Case 3 in this report.
    46,XY,der(22)t(14;22)pat.
    Aberration: Simple translocation
    No band
  • Wang S G, Ren G Q, Xue H, Shen Q Y, Song L L, Yuan P: Cytogenetic study of 1633 cases. Chin. Med. J 101:231-236, 1988. [PubMed: 3138079]
    46,XY,t(14;18)(14p18p;14q18q).
    Aberration: Whole-arm translocations
    No band
  • Yamanaka M, Ishikawa H, Saito K, Maruyama Y, Ozawa K, Shibasaki J, Nishimura G, Kurosawa K.: Prenatal findings of paternal uniparental disomy 14: report of four patients. AJMG Part A: 152A: 789-791, 2010. [PubMed: 20186803]
    Aberration: Uniparental disomy
  • Zeuthen E, Nielsen J: D/D translocations in males examined for military service. J. Med. Genet. 10:356-361, 1973. [PMC free article: PMC1013056] [PubMed: 4129971]
    Propositus No. 2800 in this report.
    45,XY,t(14q15q).
    Aberration: Robertsonian translocations
    No band
Copyright © 2011-2013, Digamber Borgaonkar.
Bookshelf ID: NBK107152
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