- Amesse L, Yen F F, Weisskopf B, Hertweck S p.: Vaginal uterine agenesis associated with amastia in a phenotypic female with a de novo 46,XX,t(8;13)(q22.1;q32.1) translocation. Clin. Genet. 55:493-495, 1999. [PubMed: 10450870]Patient TB was 16 years old:46,XX,t(8;13)(q22.1;q32.1)de novo[4]/,46,XX,t(1;12)(q23;q24.3),t(6;6)(q15;p25),t(8;13)(q22;q32)[1].MIM#: 277000Index Terms: Vaginal uterine agenesis,Mayer-Rokitansky-Kuster-Hauser syndrome
- Brueton L A, Reeve A, Ellis R, Husband P, Thompson E M, Kingston H M: Apparent cleidocranial dysplasia associated with abnormalities of 8q22 in three individuals. AJMG 43:612-618, 1992. [PubMed: 1605259]Patient 1:46,XX,der(8)der(10)t(8;10)(q22.1;p12.3)mat.Patient was 26 months.Patient 2, mother of patient 1.46,XX,t(8;10)(q22.1;p12.3)de novo.Patient 3:46,XX,dir dup(8)(q13.3q22.1)de novo.Aberration: RT,DUMIM#: 119600Index Terms: Cleidocranial dysplasiaNegative band
- Devor E J, Magee H J.: Multiple childhood behavioral disorders (Tourette syndrome, multiple tics, ADD and OCD) presenting in a family with a balanced chromosome translocation t(1;8)(q21.1;q22.1). Psychiat. Genet. 9:149-151, 1999. [PubMed: 10551546]
Matsumoto N, David D E, Johnson E W, Konecki D, Burmester J K, Ledbetter D H, Weber J L.: Breakpoint sequences of an 1;8 translocation in a family with Gilles de la Tourette syndrome. Europ. J. Hum. Genet. 8:875-883, 2000. [PubMed: 11093278]Father=46,XY,t(1;8)(q2.1;q22.1).,6/7 children are carriers of the translocation.Some of the carriers are phenotypically normal.Aberration: Reciprocal translocationMIM#: 137580,143465,164230Index Terms: Gilles de la Tourette syndrome,Attention Deficit disorder,Obsessive Compulsive disorder, Asburger's syndrome - Jain S, Yang P, Farrell S A.: A case of 8q22.1 microdeletion without the Nablus mask-like facial syndrome phenotype. Europ. J. Med. Genet. DOI=10.1016/j.ejmg.2009.12.006, 2010. [PubMed: 20074678]46,XY,arr del(8)(q22.1), 1.6 MbAberration: Interstitial deletionChromosomal Aneuploidy: 8q-Index Terms: Nablus mask-like facial syndrome
- Johnson M C, Hing A, Wood M K, Watson M S.: Chromosome abnormalities in congenital heart disease. AJMG 70:292-298, 1997. [PubMed: 9188669]Case 15:46,XX,t(8;12)(q22.1;q21.1)Anomalies included TGV and VSD.Aberration: Reciprocal translocationIndex Terms: Congenital heart disease
- Pearson A D J, Reid M M, Davison E V, Bown N, Malcolm A J, Craft A W: Cytogenetic investigations of solid tumors of children. Arch. Dis. Childhood 63:1012-1015, 1988. [PMC free article: PMC1779124] [PubMed: 3178262]46,XX,t(8;11)(q22.1;q21).The patient developed neuroblastoma and had this constitutional chromosome constitution.Aberration: Reciprocal translocationIndex Terms: NeuroblastomaNegative band
- Shieh J T C, Aradhya S, Novelli A, Manning M A, Cherry A M, Brumblay J, Salpietro C D, Bernardini L, Dallapiccola B, Hoyme H E.: Nablus mask-like facial syndrome is caused by a microdeletion of 8q detected by array-based comparative genomic hybridization. AJMG Part A 140A: 1267-1273, 2006. [PubMed: 16691576]Two patients were presented.46,XX/XY,del(8)(q22.1)dnSegment spanning probes RP11-100L22 and RP11-31K23 were deleted.Aberration: Interstitial deletionMIM#: 608156Chromosomal Aneuploidy: 8q-Index Terms: Nablus mask-like facial syndrome
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Copyright © 2011-2013, Digamber
Borgaonkar.
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National Center for Biotechnology Information (US), Bethesda (MD)
NLM Citation
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-. 08q221.