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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- Allanson J E, Gemmill R M, Hecht B K, Johnsen S, Wenger D A: Deletion mapping of the beta-glucuronidase gene. AJMG 29:517-522, 1988. [PubMed: 3376995]The patient, an adopted child, is now 8 years old.46,XY,del(7)(q11.22 or q11.23q21.1).Aberration: Interstitial deletionMIM#: 253220Negative band
- Cavicchioni O, Molina Gomes D, Leroy B, Vialard F, Hillion Y, Selva J, Ville Y.: Prenatal diagnosis of de novo (7;19)(q11.2;q13.3) translocation associated with a thick corpus callosum and Wilms tumor of the kidneys. Prenat. Diag. 25:876-878, 2005. [PubMed: 16193462]46,XY,t(7;19)(q11.2;q13.3)de novoPregnancy was terminatedAberration: Reciprocal translocationIndex Terms: Corpus callosum,Wilms' Tumor
- de la Barra F, Skoknic V C, Alliende A R, Raimann E B, Cortes F M, Lacassie Y S.: Autism and mental retardation associated with (7;20) balanced chromosomal translocation in a pair of female twins. Rev. Chil. Pediatr. 57:549-554, 1986. [PubMed: 3671832]
Lacassie Y, Alliende M A, Carvajal M V.: Personal communication., 1987.
Sultana R, Yu C-E, Yu J, Munson J, Chen D, Hua W, Estes A, Cortes F, de la Barra F, Yu D, Haider S T, Trask B J, Green E D, Raskind W H, Disteche C M, Wijsman E, Dawson G, Storm D R, Schellenberg G D, Villacres E C.: Identification of a novel gene on chromosome 7q11.2 interrupted by a translocation in a pair of autistic twins. Genomics 80:129-134, 2002. [PubMed: 12160723]Subject Nos. 260 and 261.46,XX,t(7;20)(q11.2;p11.2).Aberration: Reciprocal translocationMIM#: 209850Index Terms: Autis(tic),AUTS2 - Hsu L Y F, Yu M T, Richkind K E, Van Dyke D L, Crandall B F, Saxe D F, Khodr G S, Mennuti M, Stetten G, Miller W A, Priest J H.: Incidence and significance of chromosome mosaicism involving an autosomal structural abnormality diagnosed prenatally through amniocentesis: a collaborative study. Prenat. Diag. 16: 1-28, 1996. [PubMed: 8821848]Case Ia-8 of Richkind 88016814.mos46,XX/46,XX,t(7;9)(q11.2;q22)(20%).Normal liveborn female.Repeat amniocentesis culture showed 46,XX.Aberration: Reciprocal translocationNegative band
- Ndah B V, Stead J A, Bancazio L R, Hummel M, Wenger S L.: Prenatal detection of trisomy for the entire long arm of chromosome 7. J. Med. Genet. 37:551-553, 2000. [PMC free article: PMC1734621] [PubMed: 10970193]46,XX,der(15)t(7;15)(q11.2;p11.2).The infant had MCA, and died soon after birth.Aberration: Whole-arm translocationsChromosomal Aneuploidy: 7q+No band
- Stanley W S, Burkett S S, Segel B, Quiery A, George B, Lobel J, Shah N.: Constitutional inversion of chromosome 7 and hematologic cancers. Cancer Genet. Cytogenet. 96:46-49, 1997. [PubMed: 9209470]Case 1:46,XX and XY,inv(7)(q11.2q22)cI-2, and II-2 had AML; II-10 had myelodysplastic syndrome; and III-4 had idiopathic thrombocytopenia.Case 2:I-2 and II-1=46,XX and XY,inv(7)(q11.2q22)cII-1 had ALL.Aberration: Inversion paracentricIndex Terms: Hematologic cancersNo band
- 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;11)(q11.2;p11.3).46,XY,t(7;16)(q11.2;p13.1).Aberration: Reciprocal translocationNegative band
- Zackowski J L, Raffel L J, Blank C A, Schwartz S: Proximal interstitial deletion of 7q: a case report and review of the literature. AJMG 36:328-332, 1990. [PubMed: 2194394]Propositus:46,XY,del(7)(pter -> q11.2::q22 -> qter)pat.&"Proband''s father:46,XY,dir ins(9;7)(9pter -> 9p12::7q22 -> 7q11.2::9p12 -> 9qter;7pter -> 7q11.2::7q22 -> 7qter)pat."Aberration: Direct insertion between two chromosomesChromosomal Aneuploidy: 7q-Negative band
- 07q112 - Chromosomal Variation in Man07q112 - Chromosomal Variation in Man
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