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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-.
Chromosomal Variation in Man: A Catalog of Chromosomal Variants and Anomalies: Online NLM Version [Internet].
Show details- Same entry as in 04q210, 06q250 (Wirth et al, 1999).
- Begoviae D, Hitrec V, Lasan R, Letica L, Bariae I, Sarnavka V, Galiae S.: Partial trisomy 13 in an infant with a mild phenotype: application of fluorescence in situ hybridization in cytogenetic syndromes. Canad. Med. Assoc. J. 85:9138-9142, 1988. [PubMed: 9575279]
Zergollern L, Begovic D, Hitrec V: Proximal and distal partial trisomy 13 in the same family. Acta Med. (Yugoslavia) 34:123-135, 1980. [PubMed: 7405618]46,XX,t(13;15)(q22;p12).,46,XX,der(13)der(15)t(13;15)(q22;p12)mat.,47,XX,+der(13)t(13;15)(13pter->13q22::15p12->15pter?)mat.,46,XY,der(15)t(13;15)(15qter->15p12::13q22->13qter)mat.46,XY,add(13p).ish t(13;13)(p11;q32->qter)de novo or [rec(13)(p11q32)dup q]de novoProband was one month old with dysmorphic face.Aberration: Reciprocal translocationNegative band - Beneck D, Greco M A, Wolman S R, McMorrow L E, Jansen V, Cason J: Partial monosomy 13q and partial trisomy 18p: case report with necropsy findings. J. Med. Genet. 23:260-263, 1986. [PMC free article: PMC1049640] [PubMed: 3723557]A familial chromosomal translocation was found after karyotyping was done on an stillborn.46,XX,t(13;18)(q22;p11.2).&"46,XX,-13,+der(13),t(13;18)(q22;p11.2)mat."Aberration: Reciprocal translocationIndex Terms: Still born (premature)Negative band
- Same entry as in 03q210,05q140,05q350,06p230,06q210,07q320,09p240,12q220,13p110 (Boue and Gallano, 1
- Boue A, Gallano P: A collaborative study of the segregation of inherited chromosome structural rearrangements in 1356 prenatal diagnoses. Prenat. Diag. 4:45-67, 1984. [PubMed: 6463033]t(13;18)(q22;p11).Aberration: Reciprocal translocationNegative band
- Same entry as in 13q130,13q143 (Brown S et al, 1993).
- 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." AJMG 45:52-59, 1993. [PubMed: 8418661]Patient 12, F.A.46,XX,-13,+der(13)t(13;15)(q22;q26)pat.Patient 13, B.G.E.46,XY,del(13)(q22q34)de novo.Aberration: ST,IDChromosomal Aneuploidy: 13q-Negative band
- Brown S, Russo J, Chitayat D, Warburton D.: The 13q- syndrome: The molecular definition of a critical deletion region in band 13q32. AJHG 57:859-866, 1995. [PMC free article: PMC1801482] [PubMed: 7573047]The region is between D13S136 and D13S147 and is on the order of 1 Mb in size.
Nichols W W, Miller R C, Hoffman E, Albert D M, Weichselbaum R R, Nove J, Little J B: Interstitial deletion of chromosome 13 and associated congenital anomalies. Hum. Genet. 52:169-173, 1979. [PubMed: 511172]A 29 year old patient, 000850, with an IQ below 30 and mental age below 1 year.46,XY,del(13)(q22 -> q32).&46,XY,del(13)(pter -> q22::q32 -> qter).Severe MR, bilateral colobomata and optic nerve hypoplasia, multiple anomalies of hands and feet with marked hypoplasia of fifth digits, anomalous great toe.Aberration: Interstitial deletionNegative band - Carnevale A, Frias S, Alcantar R: Interstitial deletion of long arm of chromosome 13. Ann. Genet. 27:49-52, 1984. [PubMed: 6609673]46,XX,del(13q)(pter q22::q32 -> qter).&Parental karyotypes were normal.Aberration: Interstitial deletionNegative band
- Carpenter N J, In, Daniel A, Hook E B, Wulf G: Risks of unbalanced progeny at amniocentesis to carriers of chromosome rearrangements: data from United States and Canadian laboratories. AJMG 33:14-53, 1989. [PubMed: 2750783]Observation No. 1011.46,XX,t(13;21)(q22;q22)pat.Aberration: Reciprocal translocationNegative band
- Cekada S, Kilvain S, Brajenovic-Milic B, Brecevic L, Kirincic-Pacic E, Franulovic J.: Partial trisomy 13q22->qter and monosomy 18q21->qter as a result of familial translocation. Acta Paediat. 88:675-678, 1999. [PubMed: 10419257]Father=46,XY,t(13;18)(13pter->13q22::18q21->18qter;18pter->18q21::13q22-13qter).,Patient=46,XY,der(18)t(13;18)(q22;q21)pat.The child had MCA and fetal abnormality was not suspected antenatally.Aberration: Reciprocal translocationChromosomal Aneuploidy: 13q+;18q-
- Dryja T P, Bruns G, Gallie B, Petersen R, Green W, Rapaport J M, Albert D M, Gerald P S: Low incidence of deletion of the esterase D locus in retinoblastoma patients. Hum. Genet. 64:151-155, 1983. [PubMed: 6885050]
Weichselbaum R R, Zakov Z N, Albert D M, Friedman A H, Nove J, Little J B: New findings in chromosome 13 long-arm deletion syndrome and retinoblastoma. Opthalmology 86:1191-1196, 1979. [PubMed: 118416]46,XY,del(13)(pter -> q22::q32 -> qter).Aberration: Interstitial deletionMIM#: 180200,133280Index Terms: RetinoblastomaNegative band - Galan F, Garcia R, Aguilar M S, Moya M: Partial trisomy 13q22 to qter - a new case. Ann. Genet. 32:114-116, 1989. [PubMed: 2757360]46,XX,t(13;15)(q22;p11).&"46,XY,-15,+der(15),t(13;15)(15qter -> 15p11::13q22 -> 13qter)mat."The features of this syndrome include cranial malformations, characteristic facies, mental and developmental retardation, urologic and genital anomalies, polydactyly, abnormal muscular tonicity and convulsive status.Aberration: Simple translocationChromosomal Aneuploidy: 13q+Negative band
- Hsu L Y F, Yu M T, Richkind K E, Van Dyke D L, Crandall B F, Saxe D F, Khodr G S, Mennuti M, Stetten G, Miller W A, Priest J H.: Incidence and significance of chromosome mosaicism involving an autosomal structural abnormality diagnosed prenatally through amniocentesis: a collaborative study. Prenat. Diag. 16: 1-28, 1996. [PubMed: 8821848]Case III-4 from Priest J H (Shodair Hospital 93072).mos46,XY/46,XY,inv(13)(q22q34)[50%].,Mosaicism confirmed in blood [50%].Normal male liveborn.Aberration: Inversion paracentricNegative band
- Husslein P, Huber J, Wagenbichler P, Schnedl W: Chromosome abnormalities in 150 couples with multiple spontaneous abortions. Fert. Ster. 37:379-383, 1982. [PubMed: 7199485]46,XX,t(13;18)(q22;p11).Aberration: Simple translocationIndex Terms: Fetal wastage (Habitual recurrent, spontaneous abortion)Negative band
- Ikeuchi T, Sonta S, Sasaki M, Hujita M, Tsunematsu K: Chromosome banding patterns in an infant with 13q- syndrome. Humangenetik 21:309-314, 1974. [PubMed: 4134627]46,XY,der(13)del(13)(q22)mat.&46,XY,der(13)del(13)(pter -> q22:)mat.Aberration: Terminal deletionNegative band
- Kessel E K, Pfeiffer R A, Baisch C: "Postaxial polydactyly: A symptom of partial trisomy of the long arm of chromosome 13. Two new observations with 46,XX,t(22;13)(q13;q31) and 46,XY,dup(13)(pter to q34::q22 to qter)." Klin. Paed. 192:85-90, 1980. [PubMed: 7188997]Case B. S., 780315, in this report.46,XY,dup(13)(pter -> q34::q22 -> qter).&See comments on phenotypic manifestations of 13q partial trisomy under 13q310.Aberration: DuplicationIndex Terms: PolydactylyNegative band
- Kim H J, Hsu L Y F, Goldsmith L C, Strauss L, Hirschhorn K: Familial translocation with partial trisomy of 13 and 22: evidence that specific regions of chromosomes 13 and 22 are responsible for the phenotype of each trisomy. J. Med. Genet. 14:114-119, 1977. [PMC free article: PMC1013525] [PubMed: 853317]
Kim H J, Hsu L Y F, Paciuc S, Cristian S, Quintana A, Hirschhorn K: Cytogenetics of fetal wastage. NEJM 293:844-847, 1975. [PubMed: 1177974]46,XX,t(13;22)(q22;q12).&"46,XX,t(13;22)(13pter -> 13q22::22q12 -> 22qter;22pter -> 22q12::13q22 -> 13qter)."Case (C: 072575) in this report.47,XY,+der(22)t(13;22)(q22;q12)mat.&The authors propose that presence of duplicated euchromatic regions of No. 22 (22q11) and No. 13 (13q222 and/or 13q34) are responsible for the trisomy 22 and 13 syndromes, respectively.Aberration: Reciprocal translocationIndex Terms: Fetal wastage (Habitual recurrent, spontaneous abortion),Patau syndrome (trisomy 13)Negative band - Kiss P, Osztovics M K: Association of 13q deletion and Hirschsprung''s disease. J. Med. Genet. 26:793-797, 1989. [PMC free article: PMC1015769] [PubMed: 2614805]46,XY,del(13)(pter -> q22:).Patient had multiple congenital malformations and was 8 months old.Aberration: Terminal deletionMIM#: 142623Chromosomal Aneuploidy: 13q-Negative band
- Kucerova M, Polivkova Z, Pokorna M: Deletion of long arms of chromosome 13. Humangenetik 27:255-257, 1971. [PubMed: 1150247]46,XX,del(13)(q22).&46,XX,del(13)(pter -> q22:).Aberration: Terminal deletionNegative band
- Kuhlmann R S, Werner A L, Abramowicz J, Warsof S L, Arrington J, Levy D L: Placental histology in fetuses between 18 and 23 weeks'' gestation with abnormal karyotype. Am. J. Obstet. Gynecol. 163:1264-1270, 1990. [PubMed: 2220940]46,XX,del(13)(q22).Holoprosencephaly was associated.Aberration: Terminal deletionMIM#: 157170Chromosomal Aneuploidy: 13q-Index Terms: Holoprosencephaly
- Mascarello J T, In, Daniel A, Hook E B, Wulf G: Risks of unbalanced progeny at amniocentesis to carriers of chromosome rearrangements: data from United States and Canadian laboratories. AJMG 33:14-53, 1989. [PubMed: 2750783]Observation No. 996.46,XX,t(13;15)(q22;q21).Aberration: Reciprocal translocationNegative band
- Morales J A, Mendizabal A P, Vasquez A I, Figuera L E, Gonzlez-Garcia J R.: Interstitial deletion of 13q22->q31: case report and review of the literature. Clin. Dysmorphol. 15: 139-143, 2006. [PubMed: 16760731]46,XY,del(13)(q22q31).The patient was 9 years old.Aberration: Interstitial deletionChromosomal Aneuploidy: 13q-
- Mutchinick O M, Ruz L, Jiminez R: "Partial trisomies 13 and 22 due to nondisjunction of a maternal reciprocal translocation, t(13;22)(q22;q11)." Hum. Genet. 45:89-95, 1978. [PubMed: 730186]46,XX,t(13;22)(q22;q11).&"46,XX,t(13;22)(13pter -> 13q22::22q11 -> 22qter;22pter -> 22q11::13q22 -> 13qter)."&"46,XY,-22,+der(22),t(13;22)(q22;q11)mat."&The patient was severely mentally retarded, microcephalic, and had various other abnormalities.Aberration: Reciprocal translocationIndex Terms: MicrocephalyNegative band
- Portnoi M F, Joye N, Van den Akker J, Morlier G, Taillemite J L: Karyotypes of 1142 couples with recurrent abortion. Obst. Gynecol. 72:31-34, 1988. [PubMed: 3242501]46,XX,t(13;14)(q22;q12).Aberration: Reciprocal translocationNegative band
- Prieto F, Badia L, Orellana F, Luno E, Marty M L: Densitometry in the diagnosis of chromosome abnormalities. SNGRA 21:499-504, 1976. [PubMed: 968715]
Prieto-Garcia F, Badia-Garrabou L, Ferrer Calvete J: "Translocation t(13;21)(q22;q22) in mother and monosomia 21 and partial trisomy 13 on her son." Anales Espanoles Pediat. 10:927-932, 1977. [PubMed: 607844]46,XX,t(13;21)(q22;q22).&"46,XY,-21,+der(13)t(13;21)(13pter -> 13q22;21q22 -> 21qter)."Aberration: Simple translocationNegative band - Reddy K S, Logan J J.: Intrachromosomal triplications: molecular cytogenetic and clinical studies. Clin. Genet. 58:134-141, 2000. [PubMed: 11005147]Case 1=de novo mos46,XY,?dup(13)(q12q22)[7]/46,XY[14].ish trp(13)(q22q33)(wcp13+,D13S585+++,RB-1+).,Case 2=de novo 46,XX,dup(15)(q11q13).ish trp(15)(SNRPN+++,D15S11+++).,Case 3=de novo 46,XX,trp(2)(q11.2q21).ish trp(2)(wcp2+)Case 1 was a newborn with MCA.Aberration: DuplicationChromosomal Aneuploidy: 13q+No band
- Rivas F, Rivera H, Plascencia M L, Ibarra B, Cantu J M: "The phenotype in partial 13q trisomies, apropos of a familial (13;15)(q22;q26) translocation." Hum. Genet. 67:86-93, 1984. [PubMed: 6745930]46,XX and XY,t(13;15)(q22;q26).&"46,XY,-15,+der(15),t(13;15)t(15pter -> 15q26::13q22 -> 13qter)pat."Aberration: Simple translocationNegative band
- Roland B, Lowry R B, Robertson A S, Cox D M: An interstitial deletion of the long arm of chromosome 13. Clin. Genet. 35:276-281, 1989. [PubMed: 2469548]del(13)(q22q31).Patient was 30 months old, and anomalies were psychomotor retardation, prominent low set ears, epicanthus, hypertelorism, broad nasal bridge, hypoplastic fifth fingers, and abnormal dermatoglyphics.Parental karyotypes were normal.Aberration: Interstitial deletionChromosomal Aneuploidy: 13q-Negative band
- Saul R A, Stevenson R E: Chromosome 13 long arm deletion. Proc. Greenwood Genet. Ctr. 2:48-51, 1983.46,XY,del(13)(pter -> q22:).&Parental karyotypes were normal.Aberration: Terminal deletionNegative band
- Towfighi J, Ladda R L, Sharkey F E: Purkinje cell inclusions and ''atelencephaly'' in 13q-chromosomal syndrome. Arch. Path. Lab. Med. 111:146-150, 1987. [PubMed: 3028313]The infant died at 20 months; had severe microcephaly and hypotonia46,XY,del(13)(q22q31).Aberration: Interstitial deletionIndex Terms: Hypotonia,MicrocephalyNegative band
- Wahlstrom J, Holmgren G, Albertsson-Wikland K, Tornhage C J: Silver-like syndrome and a small deletion on chromosome 13. Acta Paediatr. 82:993-996, 1993. [PubMed: 8111185]46,XX,del(13)(q22q32).The patient was born in May, 1986. Features include pre- and postnatal growth delay, triangular face, hypertelorism, clinodactyly, and developmental delay.Aberration: Interstitial deletionMIM#: 180860Chromosomal Aneuploidy: 13q-Index Terms: Silver-like syndrome,ClinodactylyNegative 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(13;18)(q22;q23).Aberration: Simple translocationNegative band
- Same entry as in 01p312,04q230 (Warburton, 1991).
- Warburton D, In, Daniel A, Hook E B, Wulf G: Risks of unbalanced progeny at amniocentesis to carriers of chromosome rearrangements: data from United States and Canadian laboratories. AJMG 33:14-53, 1989. [PubMed: 2750783]Observation Nos. 997 and 998.46,XY,t(13;15)(q22;q26)pat.Aberration: Reciprocal translocationNegative band
- Warburton D: De novo balanced chromosome rearrangements and extra marker chromosomes identified at prenatal diagnosis: clinical significance and distribution of breakpoints. AJHG 49:995-1013, 1991. [PMC free article: PMC1683246] [PubMed: 1928105]46,XX,t(13;14)(q22;q13).46,XY,t(13;15)(q22;q23).Aberration: Reciprocal translocationNegative band
- 13q220 - Chromosomal Variation in Man13q220 - Chromosomal Variation in Man
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