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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- Bugge M, Brandt C A, Petersen M B.: DNA studies of mono- and pseudodicentric isochromosomes 18q. AJMG DOI=10.1002/ajmg.a.30026, 2004. [PubMed: 15150771]
Gravholt C H, Bugge M, Stromkjaer H, Caprani M, Henriques U, Petersen M B, Brandt C A.: A patient with Edwards syndrome caused by a rare pseudodicentric chromosome 18 of paternal origin. Clin. Genet. 52:56-60, 1997. [PubMed: 9272714]46,XY,-18,+psu dic(18)(qter->cen->p11.31::p11.31->psu cen->qter)de novo.,46,XY,psu idic(18)(p11.31)pat.The infant died 6 hours of age.Aberration: Dicentric chromosomeChromosomal Aneuploidy: 18q+No band - Leonard N J, Tomkins D J, Demianczuk N.: Prenatal diagnosis of holoprosencephaly (HPE) in a fetus with a recombinant (18)dup(18q)inv(18)(p11.31q11.2)mat. Prenat. Diag. 20:947-949, 2000. [PubMed: 11113905]Fetus=46,XX,rec(18)dup(18q)inv(18)(p11.31q11.2)mat.,Mother=46,XX,inv(18)(p11.31q11.2).The fetus was identified with HPE at 18 weeks'' gestation.Aberration: PI,REMIM#: 236100Chromosomal Aneuploidy: 18p-;18q+Index Terms: Alobar Holoprosencephaly (HPE)
- Meguid N A, Habibian R: Isodicentric chromosome 18 in an abnormal infant using chromosome specific DNA probe. Clin. Genet. 41:225-228, 1992. [PubMed: 1606710]46,XY,idic(18)(p11.31 -> qter).Aberration: Dicentric chromosomeIndex Terms: IsodicentricPositive band
- 18p1131 - Chromosomal Variation in Man18p1131 - Chromosomal Variation in Man
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