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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-.

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Chromosomal Variation in Man: A Catalog of Chromosomal Variants and Anomalies: Online NLM Version [Internet].

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  • Jenderny J, Poetsch M, Hoeltzenbein M, Friedrich U, Jauch A.: Detection of a concomitant distal deletion in an inverted duplication of chromosome 3. Is there an overall mechanism for the origin of such duplications/deficiencies? Europ. J. Hum. Genet. 6:439-444, 1998. [PubMed: 9801868]
    46,XX,inv dup(3)(qter->p26::p26->p21.3::p26),del(3)(p26)
    The proband had psychomotor retardation, microcephaly, square-shaped face, frontal bossing, temporal indentation, prominent cheeks, down-turned corners of the mouth, cleft lip and palate, eversion of lips, micrognathia/retrognathia, short neck and congenital heart disease.
    Aberration: Duplication
    Chromosomal Aneuploidy: 3p-
  • Kennedy D, Silver M M, Winsor E J T, Toi A, Provias J, Macha M, Precht K, Ledbetter D H, Chitayat D.: Inverted duplication of the distal short arm of chromosome 3 associated with lobar holoprosencephaly and lumbosacral meningomyelocele. AJMG 91:167-170, 2000. [PubMed: 10756335]
    46,XY,der(3)del(3)dup(3)(p26p21.3)de novo
    Anomalies detected by ultrasound at 20 weeks gestation and at autopsy are described.
    Aberration: DU,TD
    Chromosomal Aneuploidy: 3p+;3p-
    Index Terms: Holoprosencephaly lobar,Lumbosacral meningomyelocele
  • Kurtzman D N, Van Dyke D L, Rich C A, Weiss L: Duplication 3p21 to 3pter and cyclopia. AJMG 27:33-37, 1987. [PubMed: 3605204]
    Vance G H, Nickerson C, Sarnat L, Zhang A, Henegariu O, Morichon-Delvallez N, Butler M G, Palmer C G.: Molecular cytogenetic analysis of patients with holoprosencephaly and structural rearrangements of 7q. AJMG 76:51-57, 1998. [PubMed: 9508065]
    Patient died soon after birth and had holoprosencephaly and cyclopia.
    46,XX,-7,+der(7)t(3;7)(p21.3;q36)de novo.
    Aberration: Simple translocation
    Chromosomal Aneuploidy: 3p+
    Index Terms: Cyclop(ia)(s),Holoprosencephaly
  • Maraschio P, Tupler R, Rossi E, Barbierato L, Uccellatore F, Rocchi M, Zuffardi O, Fraccaro M.: A novel mechanism for the origin of supernumerary marker chromosomes. Hum. Genet. 97:382-386, 1996. [PubMed: 8786088]
    Lambiase et al (1984) had ascertained this patient at 4 yaers of age and was re-examined now at age 23.
    The patient was severely mentally retarded and coarse face.
    Alphoid DNA , D3Z1 and CSP were used.
    Aberration: Ring chromosome
    Chromosomal Aneuploidy: 3p+q+
    Negative band
  • Meschede D, Lemcke B, Exeler J R, De Geyter Ch, Behre H M, Nieschlag E, Horst J.: Chromosome abnormalities in 447 couples undergoing intracytoplasmic sperm injection- prevalence, types, sex distribution and reproductive relevance. Hum. Reprod. 13:576-582, 1998. [PubMed: 9572415]
    Case No. 11:
    The 29yo carrier was diagnosed with corpus luteum insufficiency.
    Aberration: Reciprocal translocation
    Index Terms: Corpus luteum insufficiency
Copyright © 2011-2013, Digamber Borgaonkar.
Bookshelf ID: NBK106948


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