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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-.

Cover of Chromosomal Variation in Man

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

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02q310

2q31
  • Al-Awadi S A, Farag T I, Naguib K K, Teebi A S, Cuschieri A, Al-Othman S A, Sundareshan T S: Interstitial deletion of the long arm of chromosome 2: del(2)(q31q33). J. Med. Genet. 20:464-465, 1983. [PMC free article: PMC1049184] [PubMed: 6655673]
    46,XX,del(2)(pter -> q31::q33 -> qter).&Parental karyotypes were normal. The patient was 2 years old and had multiple congenital anomalies.
    Aberration: Interstitial deletion
    Negative band
  • Benson K, Gordon M: A polymalformed baby born to karyotypically normal parents. Hum. Genet. 69:381, 1985. [PubMed: 3988285]
    Benson K, Gordon M, Wassman E R, Tsi C: Interstitial deletion of the long arm of chromosome 2 in a malformed infant with karyotype 46,XX,del(2)(q31q33). AJMG 25:405-411, 1986. [PubMed: 3789004]
    Wassman E R: Letter to the Editor: Response by Dr. Wassman. AJMG 29:455-456, 1988.
    Patient B. R. died after 3 days. Parental karyotypes were normal.
    46,XX,del(2)(pter -> q31::q33 -> qter).
    Aberration: Interstitial deletion
    Chromosomal Aneuploidy: 2q-
    Negative band
  • 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(2;7)(q31;q36); t(2;12)(q31;p13); t(2;16)(q31;q23).
    Aberration: Reciprocal translocation
    Negative band
  • Buchanan P D, Rhodes R L, Stevenson C E, Jr: Interstitial deletion 2q31 to 2q33. AJMG 15:121-126, 1983. [PubMed: 6683075]
    46,XX,del(2)(q31 -> q33).&Parental karyotypes were normal. Patient died after 2 years.
    Aberration: Interstitial deletion
    Negative band
  • Ferguson-Smith M A.: Genetic analysis by chromosome sorting and painting: phylogenetic and diagnostic applications. Eur. J. Hum. Genet. 5:253-265, 1997. [PubMed: 9412781]
    46,XX,t(2;17)(q31;q25)
    Utilizing the DOP-PCR, flow cytometry, and wcp techniques some good demonstrations of clinical material.
    Aberration: Reciprocal translocation
    Index Terms: DOP-PCR,Flow karyotype
  • Franceschini P, Silengo M C, Davi G F, Bianco R, Biagioli M: Interstitial deletion of the long arm of chromosome 2 (q31q33) in a girl with multiple anomalies and mental retardation. Hum. Genet. 64:98, 1983. [PubMed: 6873945]
    Aberration: Interstitial deletion
    Negative band
  • Friedrich U, Nielsen J: Autosomal reciprocal translocations in newborn children and their relatives. Humangenetik 21:133-144, 1974. [PubMed: 4135077]
    Nielsen J, Krag-Olsen B: Follow-up of 32 children with autosomal translocations found among 11,148 consecutively newborn children from 1969 to 1974. Clin. Genet. 20:48-54, 1981. [PubMed: 7296948]
    Proband No. 4838 in this report.
    46,XX,t(2;17)(q31;q25).,46,XX,t(2;17)(2pter->2q31::17q25->17qter;17pter->17q25::2q31->2qter).
    Aberration: Reciprocal translocation
  • Fryns J P, Van den Berghe H: Possible excess of mental handicap and congenital malformations in autosomal reciprocal translocations. Ann. Genet. 22:125-127, 1979. [PubMed: 316665]
    Family V. D. J. in this report.
    46,XY,t(2;7)(q31;p22).
    Aberration: Reciprocal translocation
    Negative band
  • Gadow E C, Lippold S, Otano L, Serafin E, Scarpati R, Matayoshi T: Chromosome rearrangements among couples with pregnancy losses and other adverse reproductive outcomes. AJMG 41:279-281, 1991. [PubMed: 1789279]
    46,XY,t(2;13)(q31;q12),t(3;18)(q21;p21).
    Aberration: Reciprocal translocation
    Index Terms: Pregnancy ... loss
    Negative band
  • Gardner R J M, Docker H E, Fitzgerald P H, Parfitt R G, Romain D R, Scobie N, Shaw R L, Tumewu P, Watt A J: Mosaicism with a normal cell line and an autosomal structural rearrangement. J. Med. Genet. 31:108-114, 1994. [PMC free article: PMC1049669] [PubMed: 8182714]
    Case 6:
    mos46,XY/46,XY,dir dup(2)(q31q37.1).
    Aberration: Direct duplication
    Index Terms: Mosaicism
    Negative band
  • Howard-Peebles P N, Goldsmith J P: Duplication of region 2q31 to 2qter in a family with 2/9 translocation. Hum. Hered. 30:84-88, 1980. [PubMed: 7358400]
    46,XX,t(2;9)(q31;p24).&"46,XY,-9,+der(9)t(2;9)(q31;p24)mat."&"46,XY,-9,+der(9)t(2;9)(9qter -> 9p24::2q31 -> 2qter)."
    Patient died at 1 year 1 week of age. Duplication of 2q31 to 2qter segment in patients is characterized by hypertelorism, a short nose, a broad nasal bridge, low-set ears, micrognathia, clinodactyly, a short neck and muscular hypotonia.
    Aberration: Simple translocation
    Index Terms: Clinodactyly,Ears ... low-set,Hypertelorism,Hypotonia,Micrognathia,Neck ... short
    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 IV-2 from Richkind K E (89108689).
    mos46,XY/46,XY,del(2)(q31)(12.5%).
    Normal male liveborn and at 3 1/2 years also.
    Aberration: Terminal deletion
    Chromosomal Aneuploidy: 2q-
    Negative band
  • Lazjuk G I, Lurie I W, Gurevich D B: Genetics of Patau syndrome (Analysis of 59 cases). Cytology & Genetics 6:453-454, 1984. [PubMed: 6523569]
    47,XY,t(2;22)(q31;q13)de novo,+13.
    Aberration: Simple translocation
    Index Terms: Patau syndrome (trisomy 13)
    Negative band
  • Limongi M Z, Pelliccia F, Rocchi A.: Characterization of the human common fragile site FRA2G. Genomics 81:93-97, 2003. [PubMed: 12620385]
    Pelliccia F, Rocchi A: DAPI-inducible common fragile sites. Cytogenet. Cell Genet. 42:174-176, 1986. [PubMed: 3731886]
    At least seven genes are mapped, in this fragile region at 2q31, spanning at least 450 kb that extends over 1Mb. One of these 7 genes seems to be a good candidate, as a potential tumor suppressor gene impaired by the recurrent deletions observed in some neoplasms.
    Aberration: Fragile sites
    Negative band
  • Lin C C, Bowen P, Hoo J J: Familial inversions inv (2)(q31q35) and inv (8)(q22.3q24.13) ascertained through reproductive abnormalities. Hum. Genet. 75:84-87, 1987. [PubMed: 3804335]
    Family 1 proband was a 28 year old. The inversion was present in her mother and a daughter. She had two miscarriages.
    46,XX,inv(2)(q31q35).
    Aberration: Inversion paracentric
    Negative band
  • Lindenbaum R H, Bobrow M: Reciprocal translocations in man. 3:1 meiotic disjunction resulting in 47- or 45- chromosome offspring. J. Med. Genet. 12:29-43, 1975. [PMC free article: PMC1013228] [PubMed: 123589]
    Lindenbaum R H, Hulten M A, McDermott A, Seabright M: The prevalence of translocations in parents of children with regular trisomy 21: a possible interchromosomal effect? J. Med. Genet. 22:24-28, 1985. [PMC free article: PMC1049372] [PubMed: 3156995]
    Abortus III-8 in the pedigree.
    47,XX,+der(4),t(2;4)(q31;q12)mat.
    Case 1 (MB/531) in this report.
    46,XX,t(2;4)(q31;q12).&"46,XX,t(2;4)(2pter -> 2q31::4q12 -> 4qter;4pter -> 4q12::2q31 -> 2qter)."
    Individual II-2 in the pedigree.
    46,XX,der(2)der(4)t(2;4)(q31;q12)mat.
    Individual III-6 in the pedigree.
    47,XX,+21,der(2)der(4)t(2;4)(q31;q12)mat.
    Aberration: Reciprocal translocation
    Index Terms: Down syndrome (Trisomy 21)
    Negative band
  • Markovic S, Krstic M, Sulovic V, Radojkovic Z, Adzic S: Interstitial deletion of chromosome 2. J. Med. Genet. 22:154-155, 1985. [PMC free article: PMC1049408] [PubMed: 3989837]
    46,XY,del(2)(pter -> q31::q35 -> qter).&Parental karyotypes were normal.
    Aberration: Interstitial deletion
    Negative band
  • Ocraft K P, Muskett J M, Brown S: Localization of the human aryl hydrocarbon hydroxylase gene to the 2q31 to 2pter region of chromosome 2. Ann. Hum. Genet. 49:237-239, 1985. [PubMed: 3865622]
    46,XX,t(2;12)(q31;q24).
    Aberration: Simple translocation
    MIM#: 108330
    Negative band
  • Patsalis P C, Evangelidou P, Charalambous S, Sismani C.: Fluorescence in situ hybridization characterization of apparently balanced translocation reveals cryptic complex chromosomal rearrangements with unexpected level of complexity. Europ. J. Hum. Genet. 12:647-653, 2004. [PubMed: 15162125]
    Case 15=46,XY,t(2;3)(q31;q23) initiallly. Revised=46,XY,t(15;2;15;3;2)(q15.1q15.3;q31;q15.1;q22;q31).
    The patient had malformations and MR.
    Aberration: Complex translocation
    Index Terms: FISH-CCRs
  • Ramer J C, Ladda R L, Frankel C A, Beckford A: A review of phenotype-karyotype correlations in individuals with interstitial deletions of the long arm of chromosome 2. AJMG 32:359-363, 1989. [PubMed: 2658585]
    46,XY,del(2)(q31q33)de novo.
    Common manifestations of deletion 2 patients appear to be small size at birth, growth and developmental retardation, cardiovascular malformation, microcephaly, and cleft palate.
    Aberration: Interstitial deletion
    Chromosomal Aneuploidy: 2q-
    Negative band
  • Ramer J C, Mowrey P N, Robins D B, Ligato S, Towfighi J, Ladda R L: Five children with del(2)(q31q33) and one individual with dup (2)(q31q33) from a single family: review of brain, cardiac, and limb malformations. AJMG 37:392-400, 1990. [PubMed: 2260571]
    Ramer J C, Robins D B, Towfighi J, Mowrey P N, Ligato S, Ladda R L: Letter to the Editor - Reply to Dr. Rivera. AJMG 41:390, 1991.
    Rivera H: Opposite imbalances of medial 2q in familial insertions. AJMG 41:389, 1991. [PubMed: 1789297]
    Individuals I-1, II-4, and II-6 in the family.
    46,XX, or XY,dir ins(6;2)(q16;q31q33).
    Patient II-7.
    46,XX,dup(2)(q31q33)pat.
    Patients II-9, III-3, and III-6.
    46,XX or XY, del(2)(q31q33)mat or pat.
    Aberration: IX,ID
    Chromosomal Aneuploidy: 2q+
    Negative band
  • Schmid M, Hofmann R, Kohler J, Jannek U: Familial paracentric inversion inv(2)(q31q36). Hum. Genet. 71:270-272, 1985. [PubMed: 4065899]
    The index patient was a 33 year old woman, and studied for repeated abortions.
    46,XX and XY,inv(2)(q31q36).
    Aberration: Inversion paracentric
    Index Terms: Fetal wastage (Habitual recurrent, spontaneous abortion)
    Negative band
  • Sills J A, Buckton K E, Raeburn J A: Severe mental retardation in a boy with partial trisomy 10q and partial monosomy 2q. J. Med. Genet. 13:507-510, 1976. [PMC free article: PMC1013478] [PubMed: 1018309]
    Family K 316 (MRC 3312) in this report.
    Individual I-1 in the pedigree.
    46,XY,t(2;10)(q31;q24).
    Individual III-1 in the pedigree.
    46,XY,-2,+der(2)t(2;10)(q31;q24).&"46,XY,-2,+der(2)t(2;10)(2pter -> 2q31::10q24 -> 10qter)."&Data on eight cases of partial 10q trisomy are summarized. Patients with this extra chromosomal material have severe mental retardation and physical deformities and few survive well in late childhood.
    Individuals II-1, II-2 and III-3 in the pedigree.
    46,XY,der(2)der(10)t(2;10)(q31;q24)pat.
    Aberration: Simple translocation
    Negative band
  • Spitz F, Montavon T, Monso-Hinard C, Morris M, Ventruto M-L, Antonarakis S, Ventruto V, Duboule D.: A t(2;8) balanced translocation with breakpoints near the human HOXD complex causes mesomelic dysplasia and vertebral defects. Genomics 79:493-498, 2002. [PubMed: 11944980]
    Sugawara H, Egashira M, Harada N, Jakobs T C, Yoshiura K, Kishino T, Ohta T, Niikawa N, Matsumoto N.: Breakpoint analysis of a familial balanced translocation t(2;8)(q31;p21) associated with mesomelic dysplasia. J. Hum. Genet. 39:e34, 2002. [PMC free article: PMC1735173] [PubMed: 12114491]
    Ventruto V: Reply to Hecht and Hecht Letter to the Editor. AJMG 18:780, 1984.
    Ventruto V, Pisciotta R, Renda S, Festa B, Rinaldi M M, Stabile M, Cavaliere M L, Esposito M: "Multiple skeletal familial abnormalities associated with balanced reciprocal translocation 2;8(q32;p13)." AJMG 16:589-594, 1983. [PubMed: 6660251]
    Aberration: Reciprocal translocation
    MIM#: 156232
    Index Terms: Mesomelic dysplasia,HOXD
  • Taysi K, Dengler D R, Jones L A, Heersma J R: Interstitial deletion of the long arm of chromosome 2. Case report and review of literature. Ann. Genet. 24:245-247, 1981. [PubMed: 7036843]
    Patient was 7 years old with psychomotor retardation and dysmorphic features. Chromosomes of parents were normal.
    46,XX,del(2)(q31q33).
    Aberration: Interstitial deletion
    Negative band
  • Tharapel S A, Dev V G, Shulman L P, Tharapel A T.: Prenatal karyotyping using fetal blood obtained by cordocentesis: rapid and accurate results within 24 hours. Ann. Genet. 41:69-72, 1998. [PubMed: 9706335]
    Case No. 3:
    46,XX,der(7)t(2;7)(q31;q35)pat
    Oligohydramnios was detected by ultrasound.
    Aberration: Simple translocation
    Chromosomal Aneuploidy: 2q+;7q-
    Index Terms: Cordocentesis
  • Timar L, Beres J, Kosztolanyi G, Nemeth I: De novo complex chromosomal rearrangement in a woman with recurrent spontaneous abortion and one healthy daughter. Hum. Genet. 86:421, 1991. [PubMed: 1999348]
    46,XX,t(2;7;18)(q31;q22;q21).&"46,XX,t(2;7;18)(2pter -> 2q31::18q21 -> 18qter;7pter -> 7q22::2q31 -> 2qter;18q21 -> 7q22 -> 7qter)."
    Aberration: Complex translocation
    Negative band
  • Same entry as in 02q230,02p130 (Warburton, 1991).
  • 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,XY,t(2;10)(q31;q11.2).
    46,XY,t(2;9)(q31;p24).
    Data from Henry Ford Hosp., Detroit, MI.
    46,XX,t(2;7)(q31;q36).
    Hypotonia, seizures, strabismus, and MR at 30 months.
    Aberration: Reciprocal translocation
    Index Terms: Strabismus,Hypotonia,Seizures
    Negative band
  • Wisniewski L, Chan R, Higgins J V: "Partial Trisomy 2q and familial translocation t(2;18)(q31;p11)." Hum. Genet. 45:225-228, 1978. [PubMed: 738724]
    46,XX,t(2;18)(q31;p11).&"46,XY,-18,+der (18),t(2;18)(q31;p11)mat."&The rearrangement was present in four generations, and linkage studies were performed.
    Aberration: Simple translocation
    Negative band
  • Witters I, Devriendt K, Legius E, Matthijs G, Van Schoubroeck D, Van Assche F A, Fryns J-P.: Rapid prenatal diagnosis of trisomy 21 in 5049 consecutive uncultured amniotic fluid samples by fluorescence in situ hybridisation (FISH). Prenat. Diag. 22:29-33, 2002. [PubMed: 11810646]
    46,XX,t(2;10)(q31;p13).
    Aberration: Reciprocal translocation
  • Young R S, Shapiro S D, Hansen K L, Hine L K, Rainosek D E, Guerra F A: Deletion 2q: two new cases with karyotypes 46,XY,del(2)(q31q33) and 46,XX,del(2)(q36). J. Med. Genet. 20:199-202, 1983. [PMC free article: PMC1049045] [PubMed: 6876110]
    Patient was 4 months old; and parental karyotypes were normal.
    46,XY,del(2)(pter -> q31::q33 -> qter).
    Aberration: Interstitial deletion
    Negative band
  • Zabel B, Hansen S, Hartmann W: "Partial trisomy 2q and familial translocation t(2;12)(q31;q24)." Hum. Genet. 32:101-104, 1976. [PubMed: 1262021]
    46,XY,t(2;12)(q31;q24).&"46,XX,der(2)der(12)t(2;12)(q31;q24)mat and pat."&"46,XY,-12,+der(12)t(2;12)(q31;q24)mat."&"46,XY,-12,+der(12)t(2;12)(12pter -> 12q24::2q31 -> 2qter)."&The translocation was found in three generations. The proband, with partial trisomy of 2q31 -> 2qter shows a variety of dysplastic signs, mainly of the face. Comparison with other patients with trisomy of 2q suggests common features of hypertelorism, short nose, and broad nasal bridge, low-set ears, and micrognathia (see Forabosco et al, 1973 under 02q320 and Rosenthal et al, 1974 under 02q330).
    Aberration: Simple translocation
    Index Terms: Ears ... low-set,Face ... anomalies,Hypertelorism,Micrognathia
    Negative band
  • Zergollern L, Hitrec V, Muzinic D: Clinical and cytogenetic variations of Patau syndrome. J. Genet. Hum. 23:335-345, 1975. [PubMed: 1214146]
    Case 10 (S.N.) in this report.
    47,XX,+13,t(2;6)(q31;q27).
    Aberration: Simple translocation
    Index Terms: Patau syndrome (trisomy 13)
    Negative band
Copyright © 2011-2013, Digamber Borgaonkar.
Bookshelf ID: NBK105832
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