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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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03p210

3p21
  • Adzic S, Markovic S, Mijin K, Sulovic V, Lazarevic B: Chromosomes and fertility. Cytogenetic study of couples with habitual abortion. Rev. Fr. Gynecol. Obstet. 76:201-205, 1981.
    Couple No. 3.
    46,XY,t(3;11)(p21;q25).
    Index Terms: Fetal wastage (Habitual recurrent, spontaneous abortion)
    Negative band
  • Antonini S, Kim C A, Sugayama S M, Vianna-Morgante A M.: Delimitation of duplicated segments and identification of their parental origin in two partial chromosome 3p duplications. AJMG DOI=10.1002/ajmg.10735; 113:144-150, 2002. [PubMed: 12407704]
    Patient1(RFM 23/10/80) was 13 1/2 years old, was referred because of short stature, moderate MR, and facial anomalies. Patient 2 (AAS 28/01/87) was 11 years old and presented with hypotonia.
    Patient 1=46,XY,dup(3)(p12.1 or p12.2p21.1)[146/150].,Patient 2=46,XY,dup(3)(p21.33p24.3)[60].
    Paternal origin was indicated in both cases.
    Aberration: Duplication
    Chromosomal Aneuploidy: 3p+
  • 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(3;6)(p21;q27).
    Aberration: Reciprocal translocation
    Negative band
  • Braga S, Schmidt A: Clinical and cytogenetic spectrum of duplication 3p. Europ. J. Ped. 138:195-197, 1982. [PubMed: 7094943]
    46,XX,-6,+der(6)t(3;6)(6pter -> 6q27::3p21 -> 3pter)mat.&"46,XX,t(3;6)(p21;q27)."
    Patient was 8 months old.
    Aberration: Simple translocation
    Negative band
  • Buchinger G, Wettstein A, Metze H: "Familial chromosome translocation t(3;18)(p21;p11)." J. Med. Genet. 18:119-123, 1981. [PMC free article: PMC1048683] [PubMed: 7241529]
    46,XX,t(3;18)(p21;p11).&"46,XX and XY,der(3)der(18)t(p21;p11)mat."&"46,XY,-18,+der(18)t(3;18)(18qter -> 18p11::3p21 -> 3pter)mat."
    Patient died after 10 months. Another first cousin, presumed to be similarly affected, died 24 hours after birth. Prominent features were microcephaly, cleft lip or palate or both, and malformed mouth.
    Aberration: Simple translocation
    Index Terms: Cleft lip/palate,Microcephaly,Mouth ... anomalies
    Negative band
  • Cannizzaro L A, Ladda R L, 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. 305.
    46,XY,-4,+der(4),t(3;4)(p21;p16)mat.
    Aberration: Reciprocal translocation
    Negative band
  • Charrow J, Cohen M M, Meeker D: Duplication 3p syndrome: Report of a new case and review of the literature. AJMG 8:431-436, 1981. [PubMed: 7246613]
    Patient F.W. was 5 months old.
    46,XX,t(3;12)(12qter -> 12p?::3p21 -> 3pter).
    Aberration: Simple translocation
    Negative band
  • Cohen A J, Li F P, Berg S, Marchetto D J, Tsai S, Jacobs S C, Brown R S: Hereditary renal-cell carcinoma associated with a chromosomal translocation. NEJM 301:592-595, 1979. [PubMed: 470981]
    46,XX and XY,der(3)der(8)t(3;8)(p21;q24)mat and pat.&The balanced reciprocal translocation was detected in all five members who survived renal cancer and was assigned by pedigree analysis to three of five deceased persons with renal cancer. No family member with renal cancer has shown a normal karyotype.
    Aberration: Reciprocal translocation
    Index Terms: Cancer ... renal cell
    Negative band
  • Fryns J P, Kleczkowska A, Kubien E, Petit P, Van den Berghe H: Cytogenetic survey in couples with recurrent fetal wastage. Hum. Genet. 65:336-354, 1984. [PubMed: 6693122]
    46,XX,t(3;15)(p21;q25).
    Aberration: Reciprocal translocation
    Index Terms: Fetal wastage (Habitual recurrent, spontaneous abortion)
    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 3:
    Lymphocytes=46,XX.&Amniotic fluid=mos46,XX/47,XX,+20.&"Urine epithelial cells=46,XX,t(3;12;17)(p21;q13;p13)."
    Aberration: Complex translocation
    Index Terms: Mosaicism
    Negative band
  • Gillerot Y, Hustin J, Koulischer L, Viteux V: Prenatal diagnosis of a dup(3p) with holoprosencephaly. AJMG 26:225-227, 1987. [PubMed: 3812567]
    Also see report by van Regemoorter et al, 1983.
    46,XY,t(3;10)(p21;q26).&"46,XX,-10,+der(10),t(3;10)(10pter -> 10q26::3p21 -> 3pter)pat."
    Aberration: Reciprocal translocation
    Chromosomal Aneuploidy: 3p+
    Index Terms: Holoprosencephaly
    Negative band
  • Gottschall A, Losan F, Pelz L, Wiedersberg H: A new type of familial chromsome translocation involving 3p and 6q in two unrelated families. Hum. Genet. 64:304, 1983. [PubMed: 6885078]
    t(3;6)(3qter -> 3p21::6q26 -> 6qter;6pter -> 6q26::3p21 -> 3pter).
    Aberration: Reciprocal translocation
    Negative band
  • Goumy C, Bonnet-Dupeyron M-N, Cherasse Y, Laurichesse H, Jaffray J-Y, Lacroute G, Geneix A, Lemery D, Vago P.: Chorionic villus sampling (CVS) and fluorescence in situ hybridization (FISH) for a rapid first-trimester prenatal diagnosis. Prenat. Diag. 24:249-256, 2004. [PubMed: 15065097]
    Case No. 3=46,XX,der(12)t(3;12)(p21;p13)mat.
    FISH showed 3 spots with Tel 3p probe.
    Aberration: Reciprocal translocation
    Chromosomal Aneuploidy: 3p+
  • Kennedy D, Chitayat D, Winsor E J T, Silver M, Toi A.: Prenatally diagnosed neural tube defects: ultrasound, chromosome, and autopsy or postnatal findings in 212 cases. AJMG 77:317-321, 1998. [PubMed: 9600743]
    Case 9:
    46,XY,dup(3)(p21)de novo
    Meningomyelocele along with other anomalies.
    Aberration: Duplication
    Index Terms: Meningomyelocele,NTD
  • Kok K, Mosselaar A, Faber H, Dijkhuizen T, Draaujers T G, Van der Veen A Y, Buys C H C M.: Breakpoint mapping by FISH in a Sotos syndrome patient with a constitutional translocation t(3;6). J. Med. Genet. 36: 346-347, 1999. [PMC free article: PMC1734356] [PubMed: 10227409]
    Schrander-Stumpel C T R M, Fryns J P, Hamers G G.: Sotos syndrome and de novo balanced autosomal translocation t(3;6)(p21;p21). Clin. Genet. 37: 226-229, 1990. [PubMed: 2323093]
    46,XY,t(3;6)(p22-p23;p21).
    The breakpoint appears to be distal to D3S1277.
    Aberration: Simple translocation
    MIM#: 117550
    Index Terms: Sotos syndrome
  • Makino T, Tabuchi T, Nakada K, Iwasaki K I, Tamura S, Iizuka R: Chromosomal analysis in Japanese couples with repeated spontaneous abortions. Int. J. Fertil. 35:266-270, 1990. [PubMed: 1980661]
    46,XY,t(3;18)(p21;q23).
    Aberration: Reciprocal translocation
    Negative band
  • Mehes K, Kosztolanyi G: Premature centromere division of a translocation-carrier autosome. Hum. Genet. 85:379-380, 1990. [PubMed: 2203674]
    46,XX,t(3;19)(p21;q13)pat.
    Aberration: Reciprocal translocation
    Negative band
  • Opheim K E, Brittingham A, Chapman D, Norwood T H.: Balanced reciprocal translocation mosaicism: how frequent? AJMG 57:601-604, 1995. [PubMed: 7573137]
    Case 1:
    mos47,XY,+21(15 cells)/47,XY,+21,t(3;8)(p21;q24)(5 cells).
    Clinical diagnosis of DS was confirmed but the family was lost to follow-up.
    Aberration: Reciprocal translocation
    Index Terms: Translocation ... mosaicism
    Negative band
  • Priest J H, 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. 407.
    46,XY,-18,+der(18),t(3;18)(p21;q23)mat.
    Observation No. 408.
    46,XX,t(3;18)(p21;q23)mat.
    Observation No. 411.
    46,XY,t(3;20)(p21;q13)pat.
    Aberration: Reciprocal translocation
    Negative band
  • Pruggmayer M, Zoll B, Leipoldt M, Thies U: Prenatal diagnosis and postnatal follow-up of a child with two de novo unrelated balanced reciprocal translocations. Prenat. Diag. 10:337-342, 1990. [PubMed: 2201964]
    46,XY,rcp(3;17)(p21;q25),rcp(10;15)(q26;q13)de novo.
    The boy showed normal development (follow-up till 4 years of age).
    Aberration: Double translocation
    Negative band
  • Rethore M O, Lejeune J, Carpentier S, Prieur M, Dutrillaux B, Seringe P, Rossier A, Job J C: "Trisomy for the distal portion of the short arm of chromosome No. 3 in three sibs. First instance of chromosomal insertion: Ins(7;3)(q31;p21p26)." Ann. Genet. 15:159-165, 1972. [PubMed: 4539763]
    46,XX,?inv ins(7;3)(q31;p21p26).&"46,XX,?inv ins(7;3)(7pter -> 7q31::3p21 -> 3p26::7q31 -> 7qter;3pter -> 3p26::3p21 -> 3qter)."&"46,XY,-7,+der(7)?inv ins(7;3)(q31;p21p26)mat."
    Aberration: Inverted insertions between chromosomes
    Negative band
  • Rudduck C, Franzen G: A new heritable fragile site on human chromosome 3. Hereditas 98:297-299, 1983. [PubMed: 6874402]
    Patient Nos. 18, 116, and 130 showed 2% to 12% fragile sites at band 3p21.
    Frag(3)(p21).
    Aberration: Fragile sites
    Negative band
  • Scarbrough P R, Carroll A J, Finley W H, Bridges D R: "A de novo 3p;8p unbalanced translocation resulting in partial dup(3p) and partial del(8p)." J. Med. Genet. 24:174-177, 1987. [PMC free article: PMC1049954] [PubMed: 3573002]
    46,XX,-8,+der(8)t(3;8)(p21;p23)de novo.&"46,XX,-8,+der(8)t(3;8)(3qter -> 3p21::8p23 -> 8pter)de novo."
    Aberration: Reciprocal translocation
    Chromosomal Aneuploidy: 3p+,8p-
    Negative band
  • Scholtes M C W, Behrend C, Dietzel-Dahmen J, van Hoogstraten D G, Marx K, Wohlers S, Verhoeven H, Zeilmaker G H.: Chromosomal aberrations in couples undergoing intracytoplasmic sperm injection: influence on implantation and ongoing pregnancy rates. Fert. Steril. 70:933-937, 1998. [PubMed: 9806579]
    2,280 patients undergoing ICSI were studied.
    46,XY,inv(3)(p21p25)
    Aberration: Inversion paracentric
    Index Terms: ICSI
  • Stengel-Rutkowski S, Wirtz A, Murken J P, Yu R, Mulivor R A, Greene A E, Coriell L L: "A(3;17) balanced translocation, 46 chromosomes. Repository identification No. GM-2808." Cytogenet. Cell Genet. 24:252, 1979. [PubMed: 509995]
    46,XX,t(3;17)(3qter -> 3p21::17p13 -> 17pter;17qter -> 17p13::3p21 -> 3pter).
    30-year old white female with a history of multiple fetal wastage.
    Aberration: Reciprocal translocation
    Index Terms: Fetal wastage (Habitual recurrent, spontaneous abortion)
    Negative band
  • Suzumori K, Koishi T, Manzai M, Yagami Y: A fetus with partial trisomy 3 (p21-pter) detected by prenatal diagnosis. Jpn. J. Hum. Genet. 28:45-53, 1983. [PubMed: 6876482]
    46,XX,t(3;11)(p21;q25).&"46,XX,-11,+der(11),t(3;11)(11pter -> 11q25::3p21 -> 3pter)mat."
    Aberration: Reciprocal translocation
    Chromosomal Aneuploidy: 3p+
    Negative band
  • Van Regemorter N, Vamos E, Gillerot Y, Viteux V, Hayez F, Pardou A, Flament-Durand J: Partial trisomy 3p in two siblings: clinical and pathological findings. Europ. J. Ped. 141:53-56, 1983. [PubMed: 6641768]
    46,XX,t(3;10)(p21;q26).&"46,XX and XY, der(11)t(3;10)(10pter -> 10q26::3p21 -> 3pter)mat."&"46,XX,der(3)t(3;10)(3qter -> 3p21:?)mat."
    Also see report by Gillerot et al, (1987).
    Aberration: Simple translocation
    Chromosomal Aneuploidy: 3p+
    Negative 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(3;10)(p21;p15).&"46,XY,t(3;17)(p21;q25)."
    Aberration: Reciprocal translocation
    Negative band
  • Wenger S L, Steele M W, Boone L Y, Lenkey S G, Cummins J H, Chen X Q.: "Balanced" karyotypes in six abnormal offspring of balanced reciprocal translocation normal carrier parents. AJMG 55: 47-52, 1995. [PubMed: 7702096]
    It is commented that newborn infants inheriting a seemingly "balanced" karyotype from a normal parent with a balanced reciprocal translocation may still be at an increased risk of being malformed and/or developmentally delayed because of submicroscopic chromosomal imbalances. It is proposed that autosomal fragile sites are unstable areas which predispose to breaks and unequal crossing over near the fragile site breakpoints creating minute duplications and deletions.
    46,XX,-4,+der(4)t(3;4)(p21;p15)mat.
    Aberration: Reciprocal translocation
    Chromosomal Aneuploidy: 3p+;4p-
    Negative band
Copyright © 2011-2013, Digamber Borgaonkar.
Bookshelf ID: NBK105988
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