02q323

2q32.3

Publication Details

  • Burton K A, Van Lee C C, Purcell K, Winship I, Shelling A N.: Autosomal translocation associated with premature ovarian failure. J. Med. Genet. 37:pe2, 2000. [PMC free article: PMC1734579] [PubMed: 10807701]
    46,XX,der t(2;15)(q32.3;13.3)pat.
    Proband, III-10, was 33 years old. Family history suggestive of reproductive problems.
    Aberration: Reciprocal translocation
    MIM#: 176440
    Index Terms: premature Ovarian Failure (POF)
    No band

  • Ciccone R, Giorda R, Gregato G, Guerrini R, Giglio S, Carrozzo R, Bonaglia M C, Priolo E, Lagana C, Tenconi R, Rocchi M, Pramparo T, Zuffardi O, Rossi E.: Reciprocal translocations: a trap for cytogeneticists? Hum. Genet. DOI=10.1007/s00439-005-1324-x; 117:571-582, 2005. [PubMed: 16041583]
    Ciccone R, Giorda R, Gregato G, Guerrini R, Giglio S, Carrozzo R, Bonaglia M C, Priolo E, Lagana C, Tenconi R, Rocchi M, Pramparo T, Zuffardi O, Rossi E.: Reciprocal translocations: a trap for cytogeneticists? Hum. Genet. DOI=10.1007/s00439-005-1324-x; 117:571-582, 2005. [PubMed: 16041583]
    Case 1 (CC):
    Initial=46,XX,der t(6;15)(q22;q21)mat.,Revised=46,XX,der t(6;15)(q22.23;q21)mat,ins(6;10)(10pter->10q25.2::6q22.31->6q22.33::10q25.2->10qter),del(2)(q32.3q33.1).,The deleted segment of chromosome 2 was inverted in the mother.
    The girl underwent evaluations at ages 2 and 6 years for psychomotor retardation, hypotonia, joint laxity and mild dysmorphic features.
    Aberration: ID,RT
    Chromosomal Aneuploidy: 2q-

  • Houdayer C, Portnoi M-F, Vialard F, Soupre V, Crumiere C, Taillemite J-L, Couderc R, Vazquez M-P, Bahuau M.: Pierre Robin sequence and interstitial deletion 2q32.3-q33.2. AJMG 102:219-226, 2001. [PubMed: 11484197]
    Mother=46,XX,t(2;21)(q33.2;q21.2),ins(4;2)(p14;q32.3q33.2).,Proband=46,XX,t(2;21),der del(2)(q32.3q33.2)mat.
    The proband, a child of Maghrebine parents, was 6 1/2 months old.
    The region is associated with cleft palate and Pierre Robin sequence. The deletion is flanked by D2S369 (telomeric) and D2S315 (centromeric).
    Aberration: Interstitial deletion
    MIM#: 261800
    Chromosomal Aneuploidy: 2q-
    Index Terms: Pierre Robin seuqence,Maghrebine

  • Palmer C G, Heerema N A, Bull M: Deletions in chromosome 2 and fragile sites. AJMG 36:214-218, 1990. [PubMed: 2368809]
    Patient 1.
    46,XY,del(2)(q32.2q33.3).
    Aberration: Interstitial deletion
    Chromosomal Aneuploidy: 2q-
    Positive band

  • Sumi S, Obayashi M, Murakami M, Ito J, Okada N, Sano T, Oishi H, Ogasawara N: Interstitial deletion of the long arm of chromosome 2: a dose study on isocitrate dehydrogenase 1. Jpn. J. Hum. Genet. 33:461-467, 1988. [PubMed: 3075003]
    46,XX,-2,+der(2)dir ins(5;2)(q14;q32.3q34)pat or inv ins(5;2)(q13;q32.3q34)pat.&"46,XY,dir ins(5;2)(q14;q32.3q34) or inv ins(5;2)(q13;q32.3q34)."
    Aberration: IX,XI
    Positive band