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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- Durban M, Benet J, Boada M, Fernandez E, Calafell J M, Lailla J M, Sanchez-Garcia J F, Pujol A, Egozcue J, Navarro J.: PGD in female carriers of balanced Robertsonian and reciprocal translocations by first polar body analysis. Hum. Reprod. Update 7:591-602, 2001. [PubMed: 11727868]Patient No. I:46,XX,t(1;18)(p34.3;q12.3).Aberration: Reciprocal translocationIndex Terms: Preimplantation Genetic Diagnosis (PGD)
- Menon A G, Ledbetter D H, Rich D C, Seizinger B R, Rouleau G A, Michels V F, Schmidt M A, Dewald G W, DallaTorre C M, Haines J L, Gusella J F: Characterization of a translocation within the von Recklinghausen neurofibromatosis region of chromosome 17. Genomics 5:245-249, 1989. [PubMed: 2507442]
Schmidt M A, Michels V V, Dewald G W: Cases of neurofibromatosis with rearrangements of chromosome 17 involving band 17q11.2. AJMG 28:771-777, 1987.Mother and two children had the translocation and all had NF.46,XX,t(1;17)(p34.3;q11.2).,46,XY,der(1)der(17)t(1;17)(p34.3;q11.2)mat.It is hypothesized that the NF1 locus may be in the region of the breakpoint of chromosome 17q11.2, between D17S33 and D17S57.Aberration: Reciprocal translocationMIM#: 162200Index Terms: NeurofibromatosisNegative band - Wenger S L, Steele M W, Becker D J: Clinical consequences of deletion 1p35. J. Med. Genet. 25:263, 1988. [PMC free article: PMC1015511] [PubMed: 3367353]
Wenger S L, Steele M W, Becker D J: Clinical consequences of deletion 1p35. J. Med. Genet. 29:141, 1992.Patient was 10 1/2 years old with psychological and neurological dysfunction.46,XY,t(1;11)(p34.3;q25).Aberration: Simple translocationChromosomal Aneuploidy: 1p-Negative band - Youings S, Ellis K, Ennis S, Barber J, Jacobs P.: A study of reciprocal translocations and inversions detected by light microscopy with special reference to origin, segregation, and recurrent abnormalities. AJMG DOI=10.1002/ajmg.a.20553; 126A:46-60, 2003 and 2004. [PubMed: 15039973]Lab ID DD9801803 and DD7702229:46,XY,t(1;8)(p34.3;q21.12)de novo.,46,XY,t(1;19)(p34.3;q13.3)mat.Cases ascertained because of abnormal phenotype.Aberration: Reciprocal translocation
- 01p343 - Chromosomal Variation in Man01p343 - Chromosomal Variation in Man
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