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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- Fukushima Y, Kuroki Y, Izawa T: Two cases of the Langer-Giedion syndrome with the same deletion of the long arm of chromosome 8: 46,XY or XX,del(8)(q23.3q24.13). Hum. Genet. 64:90-93, 1983. [PubMed: 6336324]Parental karyotypes in one case were normal.Aberration: Interstitial deletionMIM#: 150230Index Terms: Langer-Giedion syndromePositive band
- Reddy K S, Sulcova V, Schwartz S, Noble J E, Phillips J, Brasel J A, Huff K, Lin H J.: Mosaic tetrasomy 8q: inverted duplication of 8q23.3qter in an analphoid marker. AJMG 92:69-76, 2000. [PubMed: 10797426]Patient was a 16 year old African American girl.47,XX,+inv dup(8)(qter->q23.3::q23.3->[neocen]->qter)[15]/46,XX[5]Aberration: DuplicationChromosomal Aneuploidy: 8q+
- Yamamoto Y, Oguro N, Miyao M, Yanagisawa M: Tricho-Rhino-Phalangeal syndrome type I with severe mental retardation due to an interstitial deletion of 8q23.3-24.13. AJMG 32:133-135, 1989. [PubMed: 2784939]Patient A.G.(JMSH-21805).46,XY,del(8)(pter->q23.3::q24.13->qter).The 13 year old boy had the features of the TRP syndrome and severe mental retardation, but lacked multiple exostoses.Aberration: Interstitial deletionMIM#: 190350Chromosomal Aneuploidy: 8q-Positive band
- 08q233 - Chromosomal Variation in Man08q233 - Chromosomal Variation in Man
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