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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- Anderlid B-M, Sahlen S, Schoumans J, Holmberg E, Ahsgren I, Mortier G, Speleman F, Blennow E.: Detailed characterization of 12 supernumerary ring chromosomes using micro-FISH and search for uniparental disomy. AJMG 99:223-233, 2001. [PubMed: 11241494]Case E:The ring was present in 33% of cells in lymphocytes.,r(3)(q10q131)de novo.The patient has normal phenotype.Case F:The ring was present in 41% of cells in amniocytes.,r(3)(q10q131)mat.The patient has normal phenotype.Aberration: Ring chromosomeNo band
- Lawson-Yuen A, Berend S A, Soul J S, Irons M.: Patient with novel interstitial deletion of chromosome 3q13.1q13.3 and agenesis of the corpus callosum. Clin. Dysmorphol. 15: 217-220, 2006. [PubMed: 16957476]46,XX,del(3)(q13.1q13.3)dnThe 4 year old patient has some dysmorphic features and is developmentally delayed.Aberration: Interstitial deletionChromosomal Aneuploidy: 3q-Index Terms: Agenesis of the corpus callosum
- Tonk V S, Wyandt H E, Huang X, Patel N, Morgan D L, Kukolich M, Lockhart L H, Velagaleti G V N.: Disease associated balanced chromosome rearrangements (DBCR): report of two new cases. Ann. Genet. 46:37-43, 2003. [PubMed: 12818528]Case 1:46,XX,t(3;18;8)(3pter->3q13.1::18q22.2->18q23::8q21.2->8qter;18pter->18q22.2::3q13.1->3q23::18q23->18qter;8pter->8q21.2::3q23->3qter).The 8.5 year-old patient was referred because of developmental delay and autistic behavior. She had some dysmorphic features.Aberration: Complex translocationIndex Terms: DBCR
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- 03q131 - Chromosomal Variation in Man03q131 - Chromosomal Variation in Man
- RecName: Full=Heat shock 70 kDa protein 13; AltName: Full=Heat shock protein fam...RecName: Full=Heat shock 70 kDa protein 13; AltName: Full=Heat shock protein family A member 13; AltName: Full=Microsomal stress-70 protein ATPase core; AltName: Full=Stress-70 protein chaperone microsome-associated 60 kDa protein; Flags: Precursorgi|1351125|sp|P48723.1|HSP13_HUMANProtein
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