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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- Boue A, Gallano P: A collaborative study of the segregation of inherited chromosome structural rearrangements in 1356 prenatal diagnoses. Prenat. Diag. 4:45-67, 1984. [PubMed: 6463033]t(7;10)(q312;p153).Aberration: Reciprocal translocationNegative band
- Handyside A H, Harton G L, Mariani B, Thornhill A R, Affara N, Shaw M-A, Griffin D K.: Karyomapping: a universal method for genome wide analysis of genetic disease based on mapping crossovers between parental haplotypes. J. Med. Genet. 47: 651-658, 2010. [PubMed: 19858130]A combination of techniques and data enabled these authors to propose this method using CFTR disorder.Aberration: Marker chromosomeIndex Terms: CFTR
- Johnson D D, Michels V V, Aas M A, Dewald G W: Duplication of 7q312 to 7qter and deficiency of 18qter: report of two patients and literature review. AJMG 25:477-488, 1986. [PubMed: 3789011]The two patients were third cousins once removed.Patients 1 and 2: 46,XY,der(18),t(7;18)(q31.2;q23)mat.,Mother: 46,XX,t(7;18)(q31.2;q23).Aberration: Reciprocal translocationChromosomal Aneuploidy: 7q+Negative band
- Lai C S L, Fisher S E, Hurst J A, Hodgson S, Fox M, Jeremiah S, Povey S, Jamison D C, Green E D, Vargha-Khadem F, Monaco A P.: The SPECH1 region on human 7q31: genomic characterization of the critical interval and localization of translocations associated with speech and language disorder. AJHG 67:357-368, 2000. [PMC free article: PMC1287211] [PubMed: 10880297]
Lai C S L, Fisher S E, Hurst J A, Vargha-Khadem F, Monaco A P.: A forkhead-domain gene is mutated in a severe speech and language disorder. Nature 413:519-523, 2001. [PubMed: 11586359]Lai et al (2001) found that the gene FOXP2 in patient CS was directly disrupted by the translocation. They also identified a point mutation in affected members of the KE family. They suggest that FOXP2 is involved in the developmental process that culminates in speech and language.Family KE:Patient CS=46,XY,t(5;7)(q22;q31.2)de novo.Aberration: Reciprocal translocationIndex Terms: SPCH1 - Rodriguez L, Lopez F, Paisan L, del Mar Portugues de la Red M, Ruiz A M, Blanco M, Cortizas J A, Martinez-Frias M L.: Pure partial trisomy 7q: Two new patients and review. AJMG DOI=10.1002/ajmg.10719; 13:218-224, 2002. [PubMed: 12407716]Patient 2=46,X,der(Y)t(Y;7)(q12;q31.2).ish(WCP7+)de novo.In the newborn period, he showed cleft palate with microretrognathia, camptodactyly with 5th finger clinodactyly, and micropenis with palpable testes. At the age of one year, he was found to have Hirschprung disease.Aberration: Simple translocationChromosomal Aneuploidy: 7q+
- Sarda P, Turleau C, Cabanis M O, Jalaguier J, de Grouchy J, Bonnet H: Interstitial deletion of 7q. Ann. Genet. 31:258-261, 1988. [PubMed: 3265313]46,XY,del(7)(q312q323).Abnormalties include facial dysmorphism, psychomotor retardation and absence of language.Aberration: Interstitial deletionChromosomal Aneuploidy: 7q-Negative band
- Vincent J B, Herbrick J-A, Gurling H M D, Bolton P F, Roberts W, Scherer S W.: Identification of a novel gene on chromosome 7q31 that is interrupted by a translocation breakpoint in an autistic individual. AJHG 67:510-514, 2000. [PMC free article: PMC1287197] [PubMed: 10889047]46,XY,der t(7;13)(q31.2;q21)mat.The patient, with autism, was 12 years old.A novel gene known as "RAY1" (or "FAM4A1") was interrupted by the translocation breakpoint.Aberration: Reciprocal translocationMIM#: 209850Index Terms: Autis(tic)
- Warburton D: De novo balanced chromosome rearrangements and extra marker chromosomes identified at prenatal diagnosis: clinical significance and distribution of breakpoints. AJHG 49:995-1013, 1991. [PMC free article: PMC1683246] [PubMed: 1928105]46,XY,t(7;22)(q31.2;q13).Aberration: Reciprocal translocationNegative band
- Zeesman S, Nowaczyk M J M, Teshima I, Roberts W, Cardy J O, Brian J, Senman L, Feuk L, Osborne L R, Scherer S W.: Speech and language impairment and oromotor dyspraxia due to deletion of 7q31 that involves FOXP2. AJMG DOI=10.1002/ajmg.a.31110; 140A:509-514, 2006. [PubMed: 16470794]46,XX,del(7)(q31.2q32.2)(D7S486-D7S522-)de novo.The deletion breakpoints occurring between D7S471 and D7S2554 at 7q31.2 and D7S461 and D7S530 at 7q32.2 on the paternal derived chromosome.Aberration: Interstitial deletionMIM#: 602081,605317Chromosomal Aneuploidy: 7q-Index Terms: FOXP2,Oromotor dyspraxia
- 07q312 - Chromosomal Variation in Man07q312 - Chromosomal Variation in Man
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