05q233

5q23.3

Publication Details

  • Rivera H, Garcia-Esquivel L, Moller M, Cantu J M: Constitutional del(5)(q23.3q31.1). Ann. Genet. 30:91-93, 1987. [PubMed: 3499848]
    Patient was 4 months old with muscular hypotonia, growth and psychomotor retardation, large low-set ears, hypoplastic genitalia, right hip luxation, and bilateral equinovarus.
    46,XY,del(5)(q23.3q31.1).
    Aberration: Interstitial deletion
    Chromosomal Aneuploidy: 5q-
    Index Terms: Ears ... large,Ears ... low-set,Genitalia ... hypogenitalism,Hypotonia
    Positive band

  • Tzschach A, Krause-Plonka I, Menzel C, Kalscheuer V, Toennies H, Scherthan H, Knoblauch A, Radke M, Ropers H-H, Hoeltzenbein M.: Molecular cytogenetic analysis of a de novo interstitial deletion of 5q23.3q31.2 and its phenotypic consequences. AJMG DOI=10.1002/ajmg.a.31105; 140A:496-502, 2006. [PubMed: 16470790]
    46,XY,del(5)(q23.3q31.2)de novo.
    The 2 3/12 year old boy had a history of failure to thrive, psychomotor retardation, mild facial dysmorphic features, and long and slender fingers and toes.
    The deletion was about 9.5 Mb.
    Aberration: Interstitial deletion
    Chromosomal Aneuploidy: 5q-