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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- Atkin J F, Patil S: Duplication of the distal segment of 14q. AJMG 16:357-366, 1983. [PubMed: 6196971]46,XY,t(14;15)(q24.3;q26.1).&"46,XX,-15,+der(15)t(14;15)(15pter -> 15q26.1::14q24.3 -> 14qter)pat."Aberration: Reciprocal translocationNegative band
- Byth B C, Costa M T, Teshima I E, Wilson W G, Carter N P, Cox D W.: Molecular analysis of three patients with interstitial deletions of chromosome band 14q31. J. Med. Genet. 32:564-567, 1995. [PMC free article: PMC1050554] [PubMed: 7562974]
Karnitis S A, Burns K, Sudduth K W, Golden W L, Wilson W G: Deletion (14)(q24.3q32.1): evidence for a distinct clinical phenotype. AJMG 44:153-157, 1992. [PubMed: 1280909]Patient 1 (HSC 1251):46,XX,del(14)[pter -> q24.3 or (D14S53)::q32.1 or (D14S67) -> qter)de novo.The 5 year old patient had redundant skin, bushy eyebrows, narrow palpebral fissures, short upturned nose, epicanthal folds, a long upper lip with well-defined philtrum, and dental abnormalities (3 maxillary and 3 mandibular incisors).Aberration: Interstitial deletionChromosomal Aneuploidy: 14q-Index Terms: Dental abnormalitiesNegative band - Cingoz S, Bache I, Bjerglund L, Ropers H-H, Tommerup N, jensen H, Brandum-Nielsen K, Tumer Z.: Interstitial deletion of 14q24.3-q32.2 in a male patient with plagiocephaly, BPES features, developmental delay, and congenital heart defects. AJMG Part A: 155: 203-206, 2011. [PubMed: 21204233]46,XY,del(14)(q24.3q32.2)dn.,About 23 Mb. ,Proximal breakpoint within the BAC clone RP-11-875G20(chromosome position: 77,046,804-77,226,431), and the distal breakpoint within the BAC clone R-889B13 (chromosome position: 98,771,224-98,955,284).The patient was 10 years old.Aberration: Interstitial deletionChromosomal Aneuploidy: 14q-Index Terms: Plagiocephaly,Blepharophimosis,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
- Mullan M, Houlden H, Windelspecht M, Fidani L, Lombardi C, Diaz P, Rossor M, Crook R, Hardy J, Duff K, Crawford F: A locus for familial early-onset Alzheimer''s disease on the long arm of chromosome 14, proximal to the alpha-1-antichymotrypsin gene. Nature Genet. 2:340-342, 1992. [PubMed: 1303291]
St George Hyslop P, Haines J, Rogaev E, Mortilla M, Vaula G, Pericak-Vance M, Foncin J F, Montesi M, Bruni A, Sorbi S, Rainero I, Pinessi L, Pollen D, Polinsky R, Nee L, Kennedy J, Macciardi F, Rogaeva E, Liang Y, Alexandrova N, Lukiw W, Schlumpf K, Tanzi R E, Tsuda T, Farrer L, Cantu J M, Duara R, Amaducci L, Bergamini L, Gusella J F, Roses A, Crapper McLachlan D: Genetic evidence for a novel familial Alzheimer''s disease locus on chromosome 14. Nature Genet. 2:330-334, 1992. [PubMed: 1303289]
Van Broeckhoven C, Backhovens H, Cruts M, De Winter G, Bruyland M, Cras P, Martin J J: Mapping of a gene predisposing to early-onset Alzheimer''s disease to chromosome 14q24.3. Nature Genet. 2:335-339,, 1992. [PubMed: 1303290]Two extended histopathologically confirmed early onset families, AD/A and AD/B were studied.Complete linkage of the disease to locus D14S43 in 14q24.3 was found. Using STR (short tandem repeat) polymorphisms the gene region was found to be in an area of 8.9 centiMorgans between D14S42 and D14S53 flanking D14S43 on both sides.MIM#: 104300,104310,107280Index Terms: AlzheimerNegative band - Robin N H, Harari-Shacham A, Schwartz S, Wolff D J.: Duplication 14(q24.3q31) in a father and daughter: delineation of a possible imprinted region. AJMG 71:361-365, 1997. [PubMed: 9268110]46,XX,der dir dup(14)(q24.3q31)patThe 3 1/2 year old patient was referred for evaluation of developmental delay.Father was normal.Aberration: DuplicationChromosomal Aneuploidy: 14q+No band
- Yamamoto Y, Sawa R, Okamoto N, Matsui A, Yanagisawa M, Ikemoto S: Deletion 14q(q24.3 to q32.1) syndrome: significance of peculiar facial appearance in its diagnosis, and deletion mapping of Pi(alpha 1-antitrypsin). Hum. Genet. 74:190-192, 1986. [PubMed: 3490426]Patient Y.I. JMS-2752277 was 10 months old. The peculiar appearance includes round face, frontal hypertrichosis with thick eyebrows, horizontal narrow palpebral fissures, a short bulbous nose with a flat nasal root, and mild micrognathia.46,XY,del(14)(pter -> q24.3::q32.1 -> qter).Aberration: Interstitial deletionMIM#: 107400Index Terms: Eyebrow ... thick,Face ... broad, round flat,Hypertrichosis,Micrognathia,Palpebral fissures ... narrowNegative band
- 14q243 - Chromosomal Variation in Man14q243 - Chromosomal Variation in Man
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