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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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01p321

1p32.1
  • Campbell C G N, Wang H, Hunter G W.: Interstitial microdeletion of chromosome 1p in two siblings. AJMG DOI=10.1002/ajmg.10595; 111:289-294, 2002. [PubMed: 12210325]
    Patient 1 (M.C.) and patient 2, her half brother T.L.
    46,XY,der del(1)(p32.1p32.3)mat detected first in M.C. and then in T.L.,Mother=ins(4;1)(q35;p32.1p32.3)de novo.
    The mother was well, nonsyndromic and of normal intelligence. Both siblings had a tethered cord and MR. They had ''non-similar'' MCA.
    Aberration: Interstitial deletion
    Chromosomal Aneuploidy: 1p-
    No band
  • Grossmann V, Hockner M, Karmous-Benailly H, Liang D, Puttlinger R, Quadrelli R, Rothlisberger B, Huber A, Wu L, Spreiz A, Fauth C, Erdel M, Zschocke J, Utermann G, Kotzot D. : Parental origin of apparently balanced de novo complex chromosomal rearrangements investigated by microdissection, whole genome amplification, and microsatellite-mediated haplotype analysis. Clin. Genet. DOI=10.1111/j.1399-0004.2010.01419.x, 2010. [PubMed: 20584030]
    Case 1=46,XX,t(1,11)(1qter->1q32::1p32.1->1q32.1::,11p15.1->11pter;1pter->1p32.1::11p15.1->11qter).
    Aberration: PI,ST
  • Matsuda T, Nonomura M, Okada K, Hayashi K, Yoshida O: Cytogenetic survey of subfertile males in Japan. Urol. Internat. 44:194-197, 1989. [PubMed: 2800053]
    Matsuda T, Nonomura M, Yamamoto S, Hayashi K, Yoshida O: Sperm morphology in subfertile carriers of autosomal translocations. Int. J. Fertil. 36:178-182, 1991. [PubMed: 1678374]
    Patient No. 9.
    46,XY,t(1;9)(p321;q343).
    Patient was 28 years old and also had varicocele.
    Aberration: Reciprocal translocation
    Index Terms: Sperm ... morphology,Varicocele
    Negative band
  • Zaletajev D V, Marincheva G S: Langer-Giedion syndrome, in a child with complex structural aberration of chromosome 8. Hum. Genet. 63:178-182, 1983. [PubMed: 6840761]
    46,XY,inv(8)(q23 -> q242),del(8)(q221 -> q223),ins(8;1)(q221;p321p341;q242).
    Aberration: Direct insertion between two chromosomes
    Index Terms: Langer-Giedion syndrome
    Negative band
  • Zinner S H, Batanian J R.: Second reported patient with del(1)(p32.1p32.3) and similar clinical features suggesting a recognizable chromosomal syndrome. AJMG DOI=10.1002/ajmg.a.20265; 122A:164-167, 2003. [PubMed: 12955770]
    46,XX,del(1)(p32.1p32.3)de novo
    Patienmt was 10 years old. Distinctive features include excessive weight gain during the first 30 months, macrocephaly, frontal bossing, rounded face, mild synophrys, slightly upslanting eyes, short palpebral fissures, broad nasal bridge, low set ears, prominent philtrum, long eyelashes, and delayed psychomotor development.
    See entry of Barton et al. An earlier evaluation was of a normal karyotype.
    Aberration: Interstitial deletion
    Chromosomal Aneuploidy: 1p-
Copyright © 2011-2013, Digamber Borgaonkar.
Bookshelf ID: NBK106197
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