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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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01p341

1p34.1
  • Hanemaaijer N, Dijkhuizen T, Haadsma M, Boeve M, Boon M, Hordijk R, Kok K, Sikkema-Raddatz B, van Ravenswaaij-Arts C M A.: A 649 kb microduplication in 1p34.1, including POMGNT1, in a patient with microcephaly, coloboma and laryngomalacia; and a review of the literature. Europ. J. Med. Genet. 52: 116-119, 2009. [PubMed: 19452620]
    46,XY,t(2;14)(q37.3;q13)dup(1)(p34.1)dn
    Patient was 9 months old.
    Aberration: Duplication
    Chromosomal Aneuploidy: 1p+
    Index Terms: Laryngomalacia,POMGNT1
  • Howard P J, Portens M: Deletion of chromosome 1p. A short review. Clin. Genet. 37:127-131, 1990. [PubMed: 1968791]
    46,XY,del(1)(pter -> p36.1::p34.1 -> qter)de novo.
    Aberration: Interstitial deletion
    Chromosomal Aneuploidy: 1p-
    Negative band
  • Lurie I W, Wulfsberg E A, Prabhakar G, Rosenblum-Vos L S, Supovitz K R, Cohen M M.: Complex chromosome rearrangemnts: some breakpoints may have cellular adaptive significance. Clin. Genet. 46:244-247, 1994. [PubMed: 7529663]
    46,XX,t(1;17;5)(1qter->1p34.1::5q22->5qter;17pter->17q21.1::,1p34.1->1pter;5pter->5q15::17q21.1->17qter),t(2;19)(2pter->2q21::,19q13->19qter;19pter->19q13::2q21->2qter),t(6;13)(6pter->6q16.2,::13q13.1->13qter;13pter->13q31.1::6q16.26qter).
    The patient had developmental delay and some minor anomalies.
    Aberration: Complex translocation
    Chromosomal Aneuploidy: 5q+
    Index Terms: Complex chromosomal rearrangement
    Negative band
  • Mart+¡nez J E, Tuck-Muller C M, Gasparrini W, Li S, Wertelecki W.: 1p microdeletion in sibs with minimal phenotypic manifestations. AJMG 82:107-109, 1999. [PubMed: 9934971]
    46,XX and XY,der(1)inv(1)(p22.3p34.1)del(1)(p34.1p34.3).
    Patient was a 13 year old boy, referred because of attention deficit disorder, disturbed conduct. His sister, was 8 years old with similar minor anomalies: bilateral epicanthus, prominent nasal ridge, prominent central upper incisors and narrow bifrontal diameter.
    Aberration: IP,ID
    Chromosomal Aneuploidy: 1p-
  • Montag M, van der Ven K, Ved S, Schmutzler A, Prietl G, Krebs D, Peschka B, Schwanitz G, Albers P, Haidl G, van der Ven H.: Success of intracytoplasmic sperm injection in couples with male and/or female chromosome aberrations. Hum. Reprod. 12:2635-2640, 1997. [PubMed: 9455827]
    van der Ven K, Peschka B, Montag M, Lange R, Schwanitz G, van der Ven H H.: Increased frequency of congenital chromosomal aberrations in female partners of couples undergoing intracytoplasmic sperm injection. Hum. Reprod. 13:48-54, 1998. [PubMed: 9512227]
    Patient 95/701:
    46,XY,t(1;2)(p34.1;p21).
    He was 37 years old.
    Aberration: Reciprocal translocation
    Index Terms: ICSI
  • Youings S, Ellis K, Ennis S, Barber J, Jacobs P.: A study of reciprocal translocations and inversions detected by light microscopy with special reference to origin, segregation, and recurrent abnormalities. AJMG DOI=10.1002/ajmg.a.20553; 126A:46-60 , 2003 and 2004. [PubMed: 15039973]
    Lab ID DD9806414:
    46,XY,t(1;20)(p34.1;q11.23)pat.
    Case ascertained because of reproductive difficulties.
    Aberration: Reciprocal translocation
Copyright © 2011-2013, Digamber Borgaonkar.
Bookshelf ID: NBK107151
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