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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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16q210

16q21
  • Balestrazzi P, Giovannelli G, Rubini L L, Dallapiccola B: Partial trisomy 16q resulting from maternal translocation. Hum. Genet. 49:229-235, 1979. [PubMed: 468254]
    46,XX,t(16;22)(q21;p12).
    C. S., a 3 year old, with multiple congenital anomalies is reported here.
    46,XY,-22,+der(22)t(16;22)(q21;p12)mat.&"46,XY,-22,+der(22)t(16;22)(22qter -> 22p12::16q21 -> 16qter)mat."
    Aberration: Simple translocation
    Positive 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(16;21)(q21;p11); t(16;22)(q21;q12).
    Aberration: Reciprocal translocation
    Positive band
  • Cooke A, Tolmie J L, Darlington W, Boyd E, Thomson R, Ferguson-Smith M A: Confirmation of a suspected 16q deletion in a dysmorphic child by flow karyotype analysis. J. Med. Genet. 24:88-92, 1987. [PMC free article: PMC1049895] [PubMed: 3560173]
    McConnell T S, Fawcett J J, Baczek N A, Cram L S: Chromosome analysis by flow cytometry. Applied Cytogenetics 17:1-4, 1991.
    Deleted segment was believed to be about 7,000kb in size, and at band 16q22 by karyotyping.
    46,XX,del(16)(q21q23)de novo?
    Aberration: Interstitial deletion
    Chromosomal Aneuploidy: 16q-
    Index Terms: Flow cytometry
    Positive band
  • Cote G B, Papadakou-Lagoyanni S, Pantelakis S: A cascade of chromosomal aberrations in three generations: a fragile 16q, an extra fragment and a rearranged 20. Ann. Genet. 21:209-214, 1978. [PubMed: 314256]
    Aberration: Fragile sites
    Positive band
  • Fryns J P: Follow-up of 16q deletions. AJMG 37:510, 1990. [PubMed: 2260596]
    Fryns J P, Melchoir S, Jaeken J, van den Berghe H: Partial monosomy of the long arm of chromosome 16 in a malformed newborn: karyotype 46,XX,del(16)(q21). Hum. Genet. 38:343-346, 1977. [PubMed: 914282]
    Case V.D.B. in this report. Karyotypes of both parents were normal.
    The patient died at age one month from aspiration pneumonia.
    Aberration: Terminal deletion
    Positive band
  • Garau A, Crisponi G, Peretti D, Vanni R, Zuffardi O: Trisomy 16q21 to qter. Hum. Genet. 53:165-167, 1980. [PubMed: 7358382]
    Patient MS, 161277, died after 22 days, and had dysmorphic features. It is hypothesized, by the authors, that lethality in cases of full trisomy 16 is due to the 16q arm since 16p arm trisomy cases (four) were not severely affected.
    46,XY,t(16;18)(q21;p112).&"46,XY,t(16;18)(16pter -> 16q21::18p112 -> 18pter;18qter -> 18p112:16q21 -> 16qter)."&"46,XY,-18,+der(18)t(16;18)(q21;p112)pat."
    Aberration: Reciprocal translocation
    Positive band
  • Lippman-Hand A, Vekemans M J J: Balanced translocations among couples with two or more spontaneous abortions: Are males and females equally likely to be carriers? Hum. Genet. 63:252-257, 1983. [PubMed: 6852821]
    46,XY,t(16;20)(q21;q12).
    Aberration: Simple translocation
    Index Terms: Fetal wastage (Habitual recurrent, spontaneous abortion)
    Positive band
  • Rivera H, Vargas-Moyeda E, Moller M, Torres-Lamas A, Cantu J M: Monosomy 16q: a distinct syndrome. Apropos of a de novo del (16)(q2100q2300). Clin. Genet. 28:84-86, 1985. [PubMed: 4028506]
    46,XY,del(16)(q21q23).
    Patient died at age 6 months; parental karyotypes were normal.
    Aberration: Interstitial deletion
    Positive band
  • Shabtai F, Bichacho S, Halbrecht I: The fragile site on chromosome 16 (q21q22). Data on four new families. Hum. Genet. 55:19-22, 1980. [PubMed: 7450752]
    Aberration: Fragile sites
    Positive band
  • Sorensen K, Nielsen J, Holm V, Haahr J: Fragile site long arm chromosome 16. Hum. Genet. 48:131-134, 1979. [PubMed: 457128]
    Case 1.
    46,XY,del(11)(q14q22).
    Case 2.
    46,XX,t(4;18)(p13;p11).
    Father.
    46,XY,marker region at 16q21.
    Mother.
    46,XX,marker region at 16q21.
    Aberration: Fragile sites
    Positive band
  • Telvi L, Lochu Ph: Fra(16)(q21) in a family with four spontaneous abortions. Clin. Genet. 44:272, 1993. [PubMed: 8313626]
    Aberration: Fragile sites
    Index Terms: Spontaneous abortion
    Positive band
Copyright © 2011-2013, Digamber Borgaonkar.
Bookshelf ID: NBK105624
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