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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- D''Alessandro E, Vaccarella C D M, Lo Re M L, Cappa F, D''Alfonso A, Discepoli S, Della Penna M R, Del Porto G: Pericentric inversion of chromosome 19 in three families. Hum. Genet. 80:203-204, 1988. [PubMed: 3169749]Families 1, 2, and 3.inv(19)(p13.3q13.1).Aberration: Inversion pericentricNegative band
- Flejter W L, Finlinson D, Root S, Nguyen W, Brothman A R, Viskochil D.: Familial ring (19) chromosome mosaicism: case report and review. AJMG 66:276-280, 1996. [PubMed: 8985487]Patient CS and her mother:CS-mos45,X,-19(1cell)/46,XX(1 cell)/46,XX,r(19)(119 cells).,Mother-mos46,XX(96 cells)/46,XX,r(19)(4 cells).The patient, CS, was evaluated with suspected Fetal Alcohol syndrome at 14 months of age. Microcephaly, autistic behavior, and developmental delay was detected.Blood cultures were studied.Aberration: Ring chromosomeNegative band
- Kahkonen M, Leisti J, Thoden C J, Autio S: Frequency of rare fragile sites among mentally subnormal schoolchildren. Clin. Genet. 30:234-238, 1986. [PubMed: 3780040]Case 8.45,XX,-21,inv ins(19;21)(p13.3;q22q11.2).Aberration: Inverted insertions between chromosomesNegative band
- Schluth-Bolard C, Till M, Rafat A, Labalme A, Le lorc''h M, Banquart E, Angei C, Cordier M-P, Romana S-P, Edery P, Sanlaville D.: Monosomy 19pter and trisomy 19q13-qter in two siblings arising from a maternal pericentric inversion: clinical data and molecular charcterization. Europ. J. Med. Genet. 51: 622-630, 2008. [PubMed: 18674648]46,XX,inv(19)(p13.3q13.33).,46,XX,der inv(19)(p13.3q13.33)mat.,46,XX and XY,rec(19)dup(19q)inv(19)(p13.3q13.33)mat.The 5 year old proband was being evaluated for MR.Aberration: PI,REChromosomal Aneuploidy: 19p-; 19q+
- Speevak M D, Smart C, Unwin L, Bell M, Farrell S A.: Molecular characterization of an inherited ring (19) demonstrating ring opening. AJMG DOI=10.1002/ajmg.a.20184;121A:141-145, 2003. [PubMed: 12910493]Amnio=46,XY,r(19) in all 19 colonies, in one r(19) colony a single cell with 46,XY.,Fetal fibroblasts-in situ=46,XY,r(19)[19]/46,XY[1]; after 3 passages-46,XY[19]/46,XY,r(19)[109].,Mother=46,XX,r(19)[4/100]-cultured leukocytes.,The final fetal karyotype was:46,XY,r(19).ish r(19)(p13.3q13.4)(19ptel+,19qtel+)mat.The pregnancy was terminated. Mother was 37 years old.Aberration: Ring chromosome
- Yung J F, Sobel D B, Hoo J J: Origin of 46,XY/46,XY,r(19) mosaicism. AJMG 36:391-393, 1990. [PubMed: 2389794]Patient Baby F.Newborn blood=mos45,XY,-19[2]/46,XY,[85]/46,XY,r(19)[21].,Blood at 3years=mos46,XY[84]46,XY,r(19)[16].,Skin at 3 years=46,XY[86].Minimal clinical manifestations.Aberration: Ring chromosomeNegative band
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