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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-.
- Harada N, Abe K, Nishimura T, Sasaki K, Ishikawa M, Fujimoto M, Matsumoto T, Niikawa N.: Origin and mechanism of formation of 45,X/46,XX,+21 mosaicism in a fetus. AJMG 75:432-437, 1998. [PubMed: 9482654]mos45,X/46,XX,+21 in several tissues .Case ascertained because of nuchal cystic hygroma at 17 weeks. Pregnancy was terminated at 21 weeks.Only paternal X alleles were present in 45,X cell line; whereas the trisomy 21 cells showed 2 maternally derived heterozygous alleles and 1 paternally derived allele.
- Hustinx T W J, ter Haar B G A, Scheres J M J C, Rutten F J: Autosomal/heterosomal mixoploidy: a report on two patients, a female with a 45,X/47,XX+21 and a male with a 45,X/47,XY,+21 chromosome constitution. Ann. Genet. 17:225-234, 1974. [PubMed: 4281287]Case 1, M.B. (640731) in this report.45,X/47,XX,+21.Case 2, H.C. (571120) in this report.45,X/47,XY,+21.
- Jansen S, Kruger A J, Liebenberg G: Turner/Down mosaicism. A case report. S. Afr. Med. J. 79:731-732, 1991. [PubMed: 1828633]mos45,X(80%)/47,XX,+21(20%)-blood.The 8 year old patient was in a school for mentally handicapped.
- Jansen S, Kruger A J, Liebenberg G: Turner/Down mosaicism. A case report. S. Afr. Med. J. 79:731-732, 1991. [PubMed: 1828633]Lab A=45,X-blood.&Lab B=mos45,X(80%)/47,XX,+21(20%)-blood, 120 cells.Patient was 8 years old with stigmata of Down syndrome.
- Singh D N, Osborne R A, Hennigar G R, Barnett C D: Mosaic double aneuploidy of X and G chromosomes. Am. J. Ment. Defic. 79:644-647, 1975. [PubMed: 125038]45,X/46,X,+G/46,XX/47,XX,+G.&Three subjects with variable mosaic cell lines have been reported.
- Villaverde M M, da Silva J A: Turner-mongolism polysyndrome. Review of the first eight known cases. JAMA 234:844-847, 1975. [PubMed: 127053]45,X/46,X,+G/47,XX,+G.Index Terms: Down syndrome (Trisomy 21),Turner syndrome