0Xp1123

0Xp11.23

Publication Details

  • Fitzgerald P H, Donald R A, McCormick P: Reduced fertility in women with X chromosome abnormality. Clin. Genet. 25:301-309, 1984. [PubMed: 6713704]
    Patient 1 (MH).
    46,X,del(X)(p11.23).
    Aberration: Terminal deletion
    Negative band

  • Ingle C, Williamson R, de la Chapelle A, Herva R, Haapala K, Bates G, Willard H F, Pearson P L, Davies K E: Mapping DNA sequences in a human X-chromosome deletion which extends across the region of the Duchenne Muscular Dystrophy mutation. AJHG 37:451-462, 1985. [PMC free article: PMC1684591] [PubMed: 2988331]
    46,X,del(X)(p11.4->p22.13 or p11.23->p22.11).&The woman was phenotypically normal.
    MIM#: 310200
    Index Terms: Muscular dystrophy ... Duchenne
    Negative band

  • Kokalj Vokac N, Seme Ciglenecki P, Erjavec A, Zagradisnik B, Zagorac A.: Partial Xp duplication in a girl with dysmorphic features: the change in replication pattern of late-replicating dupX chromosome. Clin. Genet. 61:54-61, 2002. [PubMed: 11903357]
    46,X,dup(X)(p11.23->p22.33::p11.23->p22.33).
    The patient was 32 months old with dysmorphic features, including general muscular hypothonia, developmental delay, and MR.
    Aberration: Duplication
    Chromosomal Aneuploidy: Xp+

  • Mau U A, Backert I T, Kaiser P, Kiesel L.: Chromosomal findings in 150 couples referred for genetic counselling prior to intracytoplasmic sperm injection. Hum. Reprod. 12:930-937, 1997. [PubMed: 9194642]
    Couple No. 25; S.J.:
    46,inv(X)(p11.23q27.3)Y
    Diagnosed with oligoasthenoteratozoospermia grade III.
    There was no fertilization.
    Aberration: Inversion pericentric
    Index Terms: ICSI
    No band

  • 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 P33=46,X,t(X;18)(p11.23;p11.21).,Case 34=46,X,t(X;19)(p11.23;p13).,Case 35=46,X,t(X;22)(p11.23;q13.1)de novo.
    Aberration: Simple translocation
    No band