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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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  • Dalton P, Coppin B, James R, Skuse D, Jacobs P.: Three patients with a 45,X/46,X,psu dic(Xp) karyotype. J. Med. Genet. 35:519-524, 1998. [PMC free article: PMC1051351] [PubMed: 9643298]
    Case 3 was 10yrs 10mo old.
    45,X[4]/46,X,psu dic(X)(pter->q22.1::q22.1->pter)[96].
    Aberration: IC,DI
  • Tihy F, Lemyre E, Lemieux N, Dallaire L.: De novo dup(X)(q22.1q25) in a girl with an abnormal phenotype. AJMG 87:302-305, 1999. [PubMed: 10588834]
    The patient was evaluated in the neonatal period because of minor anomalies.
    46,X,dir dup(X)(q22.1q25)de novo
    The 16-month-old girl had short stature, motor delay with hypotonia, scoliosis, right hemiatrophy, and ptosis of the right eye.
    Aberration: Duplication
    Chromosomal Aneuploidy: Xq+
  • Vaglio A, Greif G, Bernal M, Sanguinetti C, Muechoso B, Quadre;;i A, Tucci P, Milunsky J M, Huang X-L, Pagano S, Quadrelli R.: Prenatal and postnatal characterization of a Xq22.1 de novo terminal deletion. Genet. Testing 10: 272-276, 2006. [PubMed: 17253933]
    The girl had normal physical and psychomotor development at 4 years. Mother was 43 years old.
    The deleted X was found to be of paternal origin and was also preferentially inactivated.
    Aberration: Terminal deletion
    Chromosomal Aneuploidy: Xq-
  • Waters J J, Campbell P L, Crocker A J M, Campbell C M.: Phenotypic effects of balanced X-autosome translocations in females: a retrospective survey of 104 cases reported from UK laboratories. Hum. Genet. 108:318-327, 2001. [PubMed: 11379878]
    Case P64,KB6677=46,X,t(X;10)(q22.1;p11.2).,Case 66,772/88=46,X,t(X;17)(q22.1;q23.3).,Case 67,86-2635=46,X,t(X;17)(q22.1;q24.2).,Case P68,B90/2452=46,X,t(X;21)(q22.1;p13).,Case P69,B90/0183=46,X,t(X;22)(q22.1;p12).
    Aberration: Simple translocation
    No band
  • Zhang A, Weaver D D, Palmer C G.: Molecular cytogenetic identification of four X chromosome duplications. AJMG 68:29-38, 1997. [PubMed: 8986272]
    Patient 1 (family #89748):
    46,X,dup(X)(q22.1->q13.3)de novo
    Detected prenatally because of hydrocephaly and meningomyelocele and at 4 months of age, the patient is developmentally delayed and has MCA.
    Patient 4 (family #88014):
    She is 30 years old and had two miscarriages and a stillborn child with Potter sequence.
    Aberration: Duplication
    Chromosomal Aneuploidy: Xq+
    Negative band
Copyright © 2011-2013, Digamber Borgaonkar.
Bookshelf ID: NBK106821


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