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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- Butler L J, Hall M E, Wharton B A: A retarded child with a 46XX,3p-q+ chromosome karyotype. J. Ment. Def. Res. 18:41-49, 1974. [PubMed: 4424443]46,XX,inv(3)(p2q1).&46,XX,inv(3)(pter -> p2::q1 -> p2::q1 -> qter).Aberration: Inversion pericentricNo band
- Surana R B, Brando M E, Conen P E, Slade R H: "46,XY,t(3;22)(p2;q13) resulting in partial trisomy for the short arm of chromosome 3." Clin. Genet. 11:201-206, 1977. [PubMed: 837571]Proband (000070) in this report.&"46,XY,-22,+der(22)t(3;22)(p2;q13)pat."&"46,XY,-22,+der(22)t(3;22)(22pter -> 22q13::3p2 -> 3pter)pat."&Another sib of the proband had a 47,XYY karyotype and during his four years only a delay in speech has been noted. The proband, however, had multiple congenital anomalies and died at age five days.46,XY,t(3;22)(p2;q13).&"46,XX,der(3)der(22)t(3;22)(p2q13)pat."Aberration: Simple translocationIndex Terms: Language deficit ... delayedNo band
- Witkowski R, Ullrich E, Piede U: Ring chromosome 3 in a retarded boy. Hum. Genet. 42:345-348, 1978. [PubMed: 669717]Case D.W. 000075 in this report with psychomotor and growth retardation, craniofacial anomalies, syndactyly of the toes, and edema of the feet. Karyotypes of parents were normal.Aberration: Ring chromosomeIndex Terms: Face ... anomalies,Syndactyl(y)(ia)No band
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- 03p200 - Chromosomal Variation in Man03p200 - Chromosomal Variation in Man
- putative glycosyl hydrolases family 32 protein [Paenarthrobacter aurescens TC1]putative glycosyl hydrolases family 32 protein [Paenarthrobacter aurescens TC1]gi|119950615|gnl|tigr|AAur_0947|gb| 526.1|Protein
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