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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- Lybaek H, Orstavik K H, Prescott T, Hovland R, Breilid H, Stansberg C, Steen V M, Houge G.: An 8.9 Mb 19p13 duplication associated with precocious puberty and a sporadic 3.9 Mb 2q23.3q24.1 deletion containing NR4A2 in mentally retarded members of a family with an intrachromosomal 19p-into-19q between-arm insertion. Europ. J. Hum. Genet. 17: 904-910, 2009. [PMC free article: PMC2986486] [PubMed: 19156171]Aberration: DU,INChromosomal Aneuploidy: 19p+;2q-Index Terms: NR4A2
- Phelan M C, Schroer R J, Krug E F: Paracentric inversion of chromosome 19 in three generations. AJMG 34:525-527, 1989. [PubMed: 2624262]Proband''s mother P.S. and maternal grandfather J.F.46,XX and XY,inv(19)(p13.2p13.3).The proband had developmental delay and mild facial anomalies.Aberration: Inversion paracentricPositive band
- Stratton R F, DuPont B R, Olsen A S, Fertitta A, Hoyer M, Moore C M.: Interstitial duplication 19p. AJMG 57:562-564, 1995. [PubMed: 7573129]46,XX,dup(19)(p13.2->p1313)de novo.The 9 month old had developmental delay, and MCA including bifrontal prominence, obtuse frontonasal angle, short columella, additional midline philtral pillar, midline ridge on the tongue, vertical midline ridge at the mental symphysis, and CHD (ASD & VSDs). The patient died at three years of age after respiratory syncytial virus pneumonia.Aberration: Direct duplicationChromosomal Aneuploidy: 19p+Positive band
- 19p132 - Chromosomal Variation in Man19p132 - Chromosomal Variation in Man
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