0Xq230

0Xq23

Publication Details

  • De Wit J: Regional localization of a beta-galactosidase locus on human chromosome 22. Somat. Cell Genet. 3:351-363, 1977. [PubMed: 414365]
    Pearson P L, van der Linden A G J M, Hagemeijer A: Localization of gene markers to regions of the human X chromosome by segregation of X-autosome translocations in somatic cell hybrids. BD-OAS X(No. 3):136-142, 1974. [PubMed: 4827480]
    cited by Gerald, P S and J A Brown:29-34
    t(X;22)(q23;q13).&"t(X;22)(q23;q13)."
    Aberration: Simple translocation
    Positive band

  • Faed M J W, Lamont M A, Baxby K: Cytogenetic and histological studies of testicular biopsies from subfertile men with chromosome anomaly. J. Med. Genet. 19:49-56, 1982. [PMC free article: PMC1048819] [PubMed: 7069747]
    Patient 269/76.
    46,Y,t(X;21)(q23;q11).
    Aberration: Simple translocation
    Positive band

  • Fryns J P, Petit P, Kleczkowska A, Van Den Berghe H: Replication and inactivation of an isodicentric X: presence of an inactive centromere influences the replication patterns. Clin. Genet. 24:180-183, 1983. [PubMed: 6627721]
    Patient R. G. was 30 years old.
    46,X,idic(X)(pter -> q23::q23 -> pter).
    Aberration: Dicentric chromosome
    Positive band

  • Garcia-Heras J, Martin J A, Day D W, Scacheri P, Witchel S F.: "De novo" duplication Xq23->q26 of paternal origin in a girl with a mildly affected phenotype. AJMG 70:404-408, 1997. [PubMed: 9182782]
    Patient KG was 3 years old.
    46,XX,dir dup(X)(q23->q26)de novo
    The 3 year old girl had mental retardation, developmental delay, and minor anomalies.
    Aberration: Duplication
    Chromosomal Aneuploidy: Xq+
    No band

  • Garica-Heras J, Martin J A, Day D A, Scacheri P, Witchel S F.: "De novo" duplication Xq23->Xq26 of paternal origin in a girl with a mildly affected phenotype. AJMG 70:404-408, 1997. [PubMed: 9182782]
    Aberration: Duplication
    Chromosomal Aneuploidy: Xq+

  • Keitges E A, Palmer C G: Analysis of spreading of inactivation in eight X autosome translocations utilizing the high resolution RBG technique. Hum. Genet. 72:231-236, 1986. [PubMed: 3957346]
    Case 1 was a prepubertal male with asymmetric facies, bifid uvula, hypoplastic ears, possible hearing deficit, short stature, kyphoscoliosis, and psychomotor retardation.
    47,XY,+der(X),t(X;7)(q23;q22).&"47,XY,+der(X),t(X;7)(Xpter -> Xq23::7q22 -> 7qter)."
    Aberration: Reciprocal translocation
    Chromosomal Aneuploidy: Xpq+
    Index Terms: Ears ... hypoplastic,Face ... asymmetric (hemi hypertrophy),Kypho-scoliosis,Stature ... short (low)
    Positive band

  • Maraschio P, Scappaticci S, Ferrari E, Fraccaro M: X chromosomes attached by their long arm: replication autonomy of the short arm adjacent to the inactive centromere. Ann. Genet. 20:179-183, 1977. [PubMed: 304701]
    Maraschio P, Zuffardi O, Locurto F: cd bands and centromeric function in dicentric chromosomes. Hum. Genet. 54:265-267, 1980. [PubMed: 7390495]
    A 16 year-old patient, C. S., was studied because of short stature and amenorrhoea.
    45,X/46,X,t(X;X)(q27;q23).&"45,X/46,X,t(X;X)(Xpter -> Xq27::Xq23 -> Xpter)."
    Aberration: Simple translocation
    Index Terms: Stature ... short (low)
    Positive band

  • Mesa-Cornejo V M, Garcia-Cruz D, Monroy-Jaramillo N, Vasquez A I, Davalos N O, Galaviz C, Kofman S.: Del Xq23 in a mosaic Turner female: molecular and cytogenetic studies. Ann. Genet. 44:171-174, 2001. [PubMed: 11755099]
    mos45,X[6]/46,X,del(X)(q23)[24]-blood.
    The patient was 22 years old.
    The abnormal X was maternal in origin. Telomeres were detected.
    Aberration: Terminal deletion
    Chromosomal Aneuploidy: Xq-

  • Mijin K, Stolevic E, Adzic S, Laca Z, Markovic S: X long arm deletion with oligomenorrhea. J. Med. Genet. 19:305-306, 1982. [PMC free article: PMC1048901] [PubMed: 7120321]
    Patient was 35 years old.
    46,X,del(X)(pter -> q23:).
    Aberration: Terminal deletion
    Index Terms: Oligomenorrhoea
    Positive band

  • Monaghan K G, Van Dyke D L, Feldman G L.: Prader-Willi-like syndrome in a patient with an Xq23q25 duplication. AJMG 80:227-231, 1998. [PubMed: 9843044]
    46,X,dup(X)(q23q25)de novo
    The patient was 24 years old.
    Aberration: Duplication
    Chromosomal Aneuploidy: Xq+
    Index Terms: PW-like syndrome

  • Morichon-Delvallez N, Couturier J, Bourdrel V: "Inherited Xq duplication due to a zygotic translocation t(X;X)(q23;q27)." Ann. Genet. 31:117-119, 1988. [PubMed: 3261146]
    46,X,dup(X)(pter -> q27::q23 -> qter)mat.
    Mother had identical karyotype but grandmother was mosaic. Patient had multiple malformations.
    Aberration: Simple translocation
    Positive band

  • Stambolian D, Sellinger B, Derrington D, Sargent R, Emanuel B S: Cytogenetic and molecular investigation of a balanced Xq13q translocation in a patient with retinoblastoma. AJMG 42:771-776, 1992. [PubMed: 1554012]
    Patient S.G.
    46,X,t(X;13)(q23;q13)de novo.
    Patient was 4 1/4 years old. Patient was delayed in gross motor development.
    Aberration: Reciprocal translocation
    MIM#: 180200
    Index Terms: Retinoblastoma
    Positive band

  • Volleth M, Stumm M, Mohnike K, Kalscheuer V M, Jakubiczka S, Wieacker P.: Prefrrential inactivation of a dup(X)(q23->q27-28) chromosome in a girl with mental retardation and dysmorphy. Hum. Hered. 52:177-182, 2001. [PubMed: 11588402]
    46,X,dup(X)(q23q27-28).
    The 19 year old patient had dysmorphic features including simian creases, epicanthal folds, broad nasal root, retrognathia, ptosis, wide-spaced nipples, and oedema of the hands and feet were striking soon after birth. Slower sexual development and corresponds to P4 and B5 stages. IQ score was 49 (HAWIE).
    Aberration: Duplication
    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 P77,B89/0658=46,X,t(X;3)(q23;p13).
    Aberration: Simple translocation
    No band

  • Yu C W, Chen H, Morrison J: Kinetics of DNA replication in a dicentric X chromosome formed by long arm to long arm fusion. Hum. Genet. 56:71-79, 1980. [PubMed: 7203483]
    Patient SB, 16 years old.
    mos 45,X/46,X,dic(X)(pter -> q23::q23 -> pter).
    Aberration: Dicentric chromosome
    Positive band