- 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 deletionMIM#: 218500Chromosomal Aneuploidy: 7p-Index Terms: CraniosynostosisNegative 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 pericentricIndex Terms: Holoprosencephaly,HydronephrosisNegative 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 translocationChromosomal Aneuploidy: 7p-;17q+
Publication Details
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Copyright © 2011-2013, Digamber
Borgaonkar.
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National Center for Biotechnology Information (US), Bethesda (MD)
NLM Citation
Borgaonkar DS. Chromosomal Variation in Man: A Catalog of Chromosomal Variants and Anomalies: Online NLM Version [Internet]. Bethesda (MD): National Center for Biotechnology Information (US); 1975-. 07p221.