07p221

7p22.1

Publication Details

  • Speleman F, Craen M, Leroy J: De novo terminal deletion 7p22.1-pter in a child without craniosynostosis. J. Med. Genet. 26:528-532, 1989. [PMC free article: PMC1015678] [PubMed: 2671374]
    Case c:
    46,XY,del(7)(qter -> p22.1:)de novo.
    The 6 year old patient had marked facial dysmorphism, tetralogy of Fallot, and genital hypoplasia but without craniosynostosis.
    Aberration: Terminal deletion
    MIM#: 218500
    Chromosomal Aneuploidy: 7p-
    Index Terms: Craniosynostosis
    Negative band

  • Lurie I W, Ilyina H G, Podleschuk L V, Gorelik L B, Zaletajev D V: Chromosome 7 abnormalities in parents of children with holoprosencephaly and hydronephrosis. AJMG 35:286-288, 1990. [PubMed: 2309771]
    Family G.
    46,XX,inv(7)(p22.1q34).
    Aberration: Inversion pericentric
    Index Terms: Holoprosencephaly,Hydronephrosis
    Negative band

  • Novelli A, Ceccarini C, Bernardini L, Zuccarello D, Caputo V, Digilio M C, Mingarelli R, Dallapiccola B.: High frequency of subtelomeric rearrangements in a cohort of 92 patients with severe mental retardation and dysmorphism. Clin. Genet. 66:30-38, 2004. [PubMed: 15200505]
    Patient 15=46,XY,der(7)t(7;17)(p22.1;q25.1)pat.
    Aberration: Reciprocal translocation
    Chromosomal Aneuploidy: 7p-;17q+