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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-.
Chromosomal Variation in Man: A Catalog of Chromosomal Variants and Anomalies: Online NLM Version [Internet].
Show details- de Pater J M, Poot M, Beemer F A, Bijlsma J B, Hack W W M, Van Dam W M, Eleveld M J, Loneus W H, Engelen J J M.: Virilization of the external genitalia and severe mental retardation in a girl with an unbalanced translocation 1;18. Europ. J. Med. Genet. 49: 19-27, 2006. [PubMed: 16473306]46,XX,der(1)t(1;18)(p36.32;q22.3)de novoThe infant had dysmorphic facial features, psychomotor retardation, and clitoris hypertrophy and was followed till 12 years of age.The unbalanced translocation resulted in partial monosomy 1p36 and partial trisomy 18q22->qter.Aberration: Simple translocationChromosomal Aneuploidy: 1p-;18q+Index Terms: Virilization of the external genitalia
- 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 1=46,XX,del(1)(p36.32)de novo,maternal origin,3.5Mb.,Patient 2 and 4=46,XX,del(1)(p36.32)de novo, paternal origin,4.5Mb.,Patient 10=46,XX,del(1)(p36.32),del(2)(q37.3)de novo,paternal origin,4.5Mb.,Patient 11=46,XX,der(1)t(1;17)(p36.32;p13.3)mat,2.5Mb.Aberration: ID,RTChromosomal Aneuploidy: 1p-
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