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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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  • Bedoyan J K, Flore L A, Alkatib A, Ebrahim S A, Bawle E V.: Transmission of ring chromosome 13 from amother to daughter with both having a 46,XX,r(13)(o13q34) karyotype. AJMG DOI=10.1002/ajmg.a.30242; 129A:316-320, 2004. [PubMed: 15326636]
    Proband=46,XX,der r(13)(p13q34)mat[100].
    Both the proband, 4 1/2 years old, and her mother are clinically within normal range.
    Aberration: Ring chromosome
    Index Terms: Ring chromosome transmission from mother to daughter
  • Blattner W A, Kistenmacher M L, Tsai S, Punnett H H, Giblett E R: "Clinical manifestations of familial 13;18 translocation." J. Med. Genet. 17:373-379, 1980. [PMC free article: PMC1048601] [PubMed: 7218277]
    Mewar R, Kline A D, Harrison W, Rojas K, Greenberg F, Overhauser J: Clinical and molecular evaluation of four patients with partial duplications of the long arm of chromosome 18. AJHG 53:1269-1278, 1993. [PMC free article: PMC1682493] [PubMed: 8250043]
    van Tuinen P, Strong L C, Pathak S: Reduced NOR association frequency in a 13/18 translocation chromosome. Hum. Genet. 65:82-84, 1983. [PubMed: 6642511]
    Individual 2 (JH232).
    46,XX or XY, t(13;18)(p13;q12).&"46,XX,-13,+der(13)t(13;18)(13qter -> 13p13::18q12 -> 18qter)."
    The translocation was present in at least three generations of this family; male carriers were sterile, and unbalanced carriers of this family had developmental and mental retardation, failure to thrive, micrognathia, high arched palate, low set malformed ears, congenital eye defects, overlapping fingers, microcephaly, heart defects, hypertrophied clitoris with congenital hypoplastic labia, and hypertonia.
    Aberration: Simple translocation
    Chromosomal Aneuploidy: 18q+
    Index Terms: Clitoris ... large,Congenital heart defects (cardiovascular anomalies),Developmental retardation,Ears ... low-set malformed,Eye ... anomalies,Fingers ... overlapping,Hypertonia,Labia majora ... hypoplastic,Microcephaly,Micrognathia,Palate ... high arched,Sterility ... male
    Variable band
  • Cunniff C, Jones K L, Benirschke K: Ovarian dysgenesis in individuals with chromosomal abnormalities Hum. Genet. 86:552-556, 1991. [PubMed: 2026420]
    Associated malformations noted were hydrocephalus, arhinencephaly, absent thumbs.
    Aberration: Ring chromosome
    Variable band
  • Daniel A: Single Cd band in dicentric translocations with one suppressed centromere. Hum. Genet. 48:85-92, 1979. [PubMed: 457138]
    Daniel A, Perel I D, Clarke A J, Saville T: "Familial dicentric translocation t(13;18)(p13;p11.2) ascertained by recurrent miscarriages." J. Med. Genet. 16:73-75, 1979. [PMC free article: PMC1012786] [PubMed: 469891]
    46,XX,t dic(13;18)(p13;p112).&"45,XX and XY,der t(13;18)(p13;p112)mat and pat."&One stillborn had normal karyotype and the translocation was present in three generations.
    NSW chromosome registry No. 1416.
    Aberration: Simple translocation
    Index Terms: Still born (premature)
    Variable band
  • FitzSimmons J, Wapner R J, Jackson L G: Repeated pregnancy loss. AJMG 16:7-13, 1983. [PubMed: 6638072]
    Aberration: Inversion pericentric
    Variable band
  • Habedank M: Partial trisomy 13q21 to qter de novo due to a recombinant chromosome rec(13)dup q. Hum. Genet. 52:91-99, 1979. [PubMed: 527979]
    46,XX,-13,+rec(13)dup q,inv(13)(p13q21).&The parents have a normal karyotype. The origin of her karyotype is assumed to be a premeiotic pericentric inversion de novo with crossing over within the inversion loop at meiosis.
    Aberration: Inversion pericentric
    Variable band
  • Howard P J, Berry A C: Familial transmission of a non-Robertsonian translocation dicentric. Clin. Genet. 29:246-250, 1986. [PubMed: 3754498]
    45,XY,psu dic(18)t(13;18)(13qter -> 13p13::18p11.32 -> 18qter).
    Aberration: Dicentric chromosome
    Variable band
  • Jackson L G: Personal communication, 1978.
    Aberration: Inversion pericentric
    Variable band
  • Maltby E L: Familial pericentric inversion (13) detected by antenatal diagnosis. J. Med. Genet. 21:149-151, 1984. [PMC free article: PMC1049248] [PubMed: 6716417]
    46,XX,inv(13)(p13q22).&46,XX,rec(13),dup q,inv(13)(p13q22).
    Aberration: PI,RE
    Variable band
  • McCorquodale M M, Kolacki P, Kurczynski T W, Baugh E: Tissue-specific mosaicism for the stability of a ring 13 chromosome. J. Ment. Def. Res. 30:389-399, 1986. [PubMed: 3806666]
    Proband S.B. was 5 years old.
    46,XX,-13,+r(13)(p13q34).&Various other minor cell lines were found, predominant among which were tiny ring (13), dicentric r(13), and monosomy 13.
    Aberration: Ring chromosome
    Variable band
  • McDermott A, Parrington J M: Elucidation of a pericentric inversion of a D-group chromosome in the mother of a child with Patau''s syndrome. Ann. Hum. Genet. 38:305-307, 1975. [PubMed: 1137345]
    46,XY,rec(13),dupq,inv(13)(p13q21)mat.&46,XY,rec(13),dupq,inv(13)(qter -> p13::q21 -> qter).&46,XX,inv(13)(p13q21).&46,XX,inv(13)(pter -> p13::q21 -> p13::q21 -> qter).
    Aberration: PI,RE
    Index Terms: Patau syndrome (trisomy 13)
    Variable band
  • Mohammed F M, Krishna Murthy D S, Farag T I, Al-Awadi S A, Al-Othman S A, Hammad I: "Familial pericentric inversion of chromosome 13, 46,XX,inv(13)(p13;q11): a new variant." Ann. Genet. 36:181-185, 1993. [PubMed: 8117067]
    46,XX,der inv(13)(p13q11)pat.
    The 10 year old proband was evaluated during a routine screening of females with inguinal hernia and/or mass.,The couple had one miscarriage, and three other inversion carrier sisters were normal.
    The proband had 2 abnormal cells: 47,XX,+inv(13) and 46,XY(probably X and a misprint in the paper),inv(13),inv(13) with the maternal 13 being absent.
    Aberration: PI,MA
    Variable band
  • Niikawa N, Tamura T, Tomiyasu F, Kajii T: 13q-/r(13) mosaicism. J. Med. Genet. 17:316-319, 1980. [PMC free article: PMC1048579] [PubMed: 7205909]
    Tamura T, Umetsu M, Motoya H, Niikawa N: 13q-/r(13) mosaicism. Europ. J. Ped. 136:101-104, 1981. [PubMed: 7215384]
    It appears that the same patient has been reported in these two publications. Patient was two months old, with multiple malformations. Karyotypes on parents were normal.&mos 46,XX,del(13)(q22)/46,XX,r(13)(p13q22).
    Aberration: Ring chromosome
    Variable band
  • Valerio D, Lavorgna F, Scalona M, Conte A: A new case of partial trisomy 19q (q13.2 to qter) owing to an unusual maternal translocation. J. Med. Genet. 30:697-699, 1993. [PMC free article: PMC1016504] [PubMed: 8411060]
    Patient had MCA and died 10 days after birth.
    46,XY,-13,+der(13)t(13;19)(p13;q13.2)mat.&"46,XY,-13,+der(13)t(13;19)(13qter -> 13p13::19q13.2 -> 19qter)mat."&"46,XX,t(13;19)(p13;q13.2)."
    Major features of the patient included facial dysmorphism, bilateral coloboma, narrow and hypoplastic nails, tetralogy of Fallot, genitourinary and gastrointestinal anomalies, and agenesis of the corpus callosum.
    Aberration: Simple translocation
    Chromosomal Aneuploidy: 19q+
    Index Terms: Tetralogy of Fallot,Coloboma ... bilateral,Agenesis of corpus callosum
    Variable band
  • Vekemans M J J, Morichon-Delvallez N: Duplication of the long arm of chromosome 13 secondary to a recombination in a maternal intrachromosomal insertion (shift). Prenat. Diag. 10:787-794, 1990. [PubMed: 1963687]
    46,XX,dir ins(13)(p13q12q14)mat.
    The characteristics were compatible with Patau syndrome.
    Aberration: Direct insertions within a chromosome
    Chromosomal Aneuploidy: 13q+
    Variable band
  • Wenger S L, Steele M W: Meiotic consequences of pericentric inversions of chromosome 13. AJMG 9:275-283, 1981. [PubMed: 7294066]
    46,XX and XY,der inv (13)(p13q21)mat.&The inverted chromosome 13 was transmitted through three generations. The proband, with recombinant 13 was 8 months old. It is suggested that certain manifestations (highly arched palate, long philtrum, polydactyly, microphthalmia, and capillary hemangiomata) result from duplication of the distal 13q while others (cleft lip/palate, scalp defects, congenital heart disease) result from duplication of the proximal 13q.
    Aberration: Inversion pericentric
    Index Terms: Cleft lip/palate,Congenital heart defects (cardiovascular anomalies),Eye ... microphthalmia,Hemangioma,Microphthalmia,Philtrum ... long,Palate ... high arched,Polydactyly,Scalp defects
    Variable band
Copyright © 2011-2013, Digamber Borgaonkar.
Bookshelf ID: NBK105662
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