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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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03p120

3p12
  • Anderlid B-M, Sahlen S, Schoumans J, Holmberg E, Ahsgren I, Mortier G, Speleman F, Blennow E.: Detailed characterization of 12 supernumerary ring chromosomes using micro-FISH and search for uniparental disomy. AJMG 99:223-233, 2001. [PubMed: 11241494]
    Case B:
    The ring was present in 5-6% of cells in lymphocytes.,r(3)(p10p12)de novo.
    The patient has normal phenotype.
    Case C:
    The ring was present in 56% of cells in cvs.,r(3)(p10p12)mat.
    The patient was normal at autopsy.
    Case D:
    The ring was present in 63% of cells in amniocytes.,r(3)(p10p12)de novo.
    The patient was normal at autopsy.
    Aberration: Ring chromosome
    No band
  • Barsel G, 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. 398.
    46,XY,t(3;17)(p12;p13)pat.
    Aberration: Reciprocal translocation
    Positive band
  • Creasy M R, Crolla J A, Daker M G: A familial reciprocal translocation between three chromosomes. Humangenetik 24:303-308, 1974. [PubMed: 4140839]
    46,XX,t(3;4;14)(p12;q13;p13).,46,XX,der(3)der(4)der(14)(p12;q13;p13)mat,9qh+pat.,46,XX,-4,-14,+der(4)+der(14)t(3;4;14)(p12;q13;p13)mat,9qh+mat.,46,XX,-4,-14,+der(4)+der(14)t(3;4;14)(4pter->4q13::3p12->3pter;,14qter->14p13::4q13->4qter)mat,9qh+mat.
    Aberration: Complex translocation
    Positive band
  • Fogle T A, McKenzie W H: "Cytogenetic study of a large black kindred; inversions, heteromorphisms, and segregation analysis." Hum. Genet. 55:345-352, 1980. [PubMed: 7203469]
    Fogle T A, Namboodiri K K, Elston R C, McKenzie W H, Hames C G: Linkage Relationships of biochemical markers to Q- and C- band varients in a large black kindred. Hum. Genet. 55:353-356, 1980. [PubMed: 6937430]
    46,XX and XY, inv(3)(p12q11)mat and pat.
    Aberration: Inversion pericentric
    Positive band
  • Guichaoua M R, Speed R M, Luciani J M, Delafontaine D, Chandley A C: Infertility in human males with autosomal translocations. II. Meiotic studies in three reciprocal rearrangements, one showing tertiary monosomy in a 45-chromosome individual and his father. Cytogenet. Cell Genet. 60:96-101, 1992. [PubMed: 1611917]
    Patient J.-L.C.
    46,XY,t(3;5)(p12;q34).
    Aberration: Reciprocal translocation
    Index Terms: Meiotic ... studies
    Positive band
  • Hsu 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. 303.
    46,XX,t(3;4)(p12;q34)pat.
    Aberration: Reciprocal translocation
    Positive band
  • Kleczkowska A, Fryns J P, Van den Berghe H: Pericentric inversions in man: personal experience and review of the literature. Hum. Genet. 75:333-338, 1987. [PubMed: 3570287]
    46,XX,inv(3)(p12q13).
    Aberration: Inversion pericentric
    Positive band
  • Lindberg L, Pelto K, Borgstrom G H: Familial pericentric inversion (3)(p12q24). Hum. Genet. 89:433-436, 1992. [PubMed: 1618492]
    46,XX and XY,inv(3)(p12q24)mat and pat.
    No phenotypic effect of the inversion in a large kindred was found (22 carriers).
    Aberration: Inversion pericentric
    Positive band
  • Luke S, Bennett H S, Pitter J H, Verma R S: "A new case of monosomy for 17q25 to qter due to a maternal translocation \t(3;17)(p12;q24)\." Ann. Genet. 35:48-50, 1992. [PubMed: 1610120]
    Patient J.S.
    46,XX,3p-,17q+,del(17)(q25).&"Mother:46,XX,t(3;17)(p12;q24)."
    The proband was 18 months old and screened for fragile X.,The patient has dysmorphic features including cleft palate, micrognathia, and glossoptosis.
    The karyotype of the patient is interpreted to have been the result of a meiotic crossing-over resulting in the deletion of a segment of 17 long arm q25 to qter. This deletion was confirmed by the AluI/Giemsa technique.
    Aberration: ST,ID
    Chromosomal Aneuploidy: 17q-
    Index Terms: Glossoptosis
    Positive band
  • Neri G, Reynolds J F, Westphal J, Hinz J, Daniel A: Interstitial deletion of chromosome 3p: report of a patient and delineation of a proximal 3p deletion syndrome. AJMG 19:189-193, 1984. [PubMed: 6496569]
    46,XY,del(3)(pter->p14.2::p12->qter).,Parental karyotypes were normal; and the fragile site at 3p14 was observed.
    Aberration: Interstitial deletion
    Positive band
  • Sikkema-Raddatz B, Sijmons R H, Tan-Sindhunata M B, van der Veen A Y, Brunsting R, de Vries B, Beekhuis J R, Bekedam D J, van Aken B, de Jong B.: Prenatal diagnosis in two cases of de novo complex balanced chromosomal rearrangements. Three-year follow-up in one case. Prenat. Diag. 15:467-473, 1995. [PubMed: 7644437]
    Case 1:
    46,XY,t(3;4;10;17)(4pter->4p14::3q26.2->3p12::4q12->4qter;4q12->4p14::3q26.2->3qter;10qter->10q21::3p26->3p12::10q21->10p12::17q23->17qter;10pter->10p12::17q23->17pter).
    Both CVS and amniocyte culture showed the translocation with 3 and 4 chromosomes respectively. Autopsy and ultrasound examination showed no anomalies.
    Aberration: Complex translocation
    Positive band
  • Telvi L, Folhen M, Raoul O, Feingold J, Ponsot G, Pompidou A, Rethore M O, Lejeune J: "Segregation of three reciprocal translocations in the same family: t(3;4), t(5;10), and t(15;21)." AJMG 42:716-719, 1992. [PubMed: 1632445]
    Propositus C.M., 91288.
    46,XY,t(3;4)(p12;p15.1)mat,der(10)t(5;10)(p12;p13)pat.
    The male infant had epilepsy and static antenatal encephalopathy.
    Aberration: Reciprocal translocation
    Positive band
  • Wieczorek D, Bolt J, Schwechheimer K, Gillessen-Kaesbach G.: A patient with interstitial deletion of the short arm of chromosome 3 (pter->p21.2::p12->qter) and a CHARGE-like phenotype. AJMG 69:413-417, 1997. [PubMed: 9098493]
    46,XY,del(3)(pter->p21.2::p12->qter)de novo.
    Patient died at 4 monts of age and had coloboma of iris, heart defect, choanal atresia, retardation of growth and development, genital hypoplasia, and ear anomalies.
    Aberration: Interstitial deletion
    MIM#: 214800
    Chromosomal Aneuploidy: 3p-
    Index Terms: CHARGE-like phenotype
Copyright © 2011-2013, Digamber Borgaonkar.
Bookshelf ID: NBK106650
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