NCBI Bookshelf. A service of the National Library of Medicine, National Institutes of Health.
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- Bourthoumieu S, Esclaire F, Terro F, Fiorenza M, Eyraud J-L, Servaud M, Cantaloube M, Fermeaux V, Yardin C.: Two unusual chromosome aberrations ascertained by sonographic anomalies. Prenat. Diag. 24:219-233, 2004. [PubMed: 15057957]47,XX,t(6;21;14)(q14;q21;q21)mat,+21.Case presented with cystic hygroma at 12 weeks'' gestation. Anatomic examination revealed features of Down syndrome.Aberration: Complex translocation
- Cannizzaro L, Ladda R L, In, Daniel A, Hook E B, Wulf G: Risks of unbalanced progeny at amniocentesis to carriers of chromosome rearrangements: data from United States and Canadian laboratories. AJMG 33:14-53, 1989. [PubMed: 2750783]Observation Nos. 676 and 67746,XX,t(6;13)(q14;q34)mat.Aberration: Reciprocal translocationPositive band
- De Arce M A, Grace P M, McManus S: A computer model for the study of segregation in reciprocal translocation carriers: application to 20 new cases. AJMG 24:519-525, 1986. [PubMed: 3755291]t(6;8)(q14;p23).Aberration: Reciprocal translocationPositive band
- Grati F R, Lalatta F, Turolla L, Cavallari U, Gentilin B, Rossella F, Cetin I, Antonazzo P, Belloti M, Dulcetti F, Baldo D, Tenconi R, Simoni G, Miozzo M.: Three cases with de novo 6q imbalance and variable prenatal phenotype. AJMG 136A:254-258, 2005. [PubMed: 15957159]Family A: Case 1=46,XX,del(6)(q22;q25.1->q25.2)de novo,dup(6)(q23q25.1).,Case 2=46,XY,del(6)(q21)de novo.,Family B: Case 3=46,XX,del(6)(q14->q16)de novo.,All deletions were paternal in origin.Case 1 was diagnosed with arthrogryposis. Case 2 had IUGR. Case 3 had minor dysmorpholgy.Aberration: Interstitial deletionChromosomal Aneuploidy: 6q- and 6q+
- Lyberatou-Moraitou E, Grigori-Kostaraki P, Retzepopoulou Z, Kosmaidou-Aravidou Z: Cytogenetics of recurrent abortions. Clin. Genet. 23:294-297, 1983. [PubMed: 6851220]46,XX,t(6;11)(q14;p13).Aberration: Simple translocationIndex Terms: Fetal wastage (Habitual recurrent, spontaneous abortion)Positive band
- Mann J, Wcislo K, In, Daniel A, Hook E B, Wulf G: Risks of unbalanced progeny at amniocentesis to carriers of chromosome rearrangements: data from United States and Canadian laboratories. AJMG 33:14-53, 1989. [PubMed: 2750783]Observation No. 65246,XX,t(6;9)(q14;q21).Aberration: Reciprocal translocationPositive band
- Ness G O, Lybaek H, Houge G.: Usefulness of high-resolution comparative genomic hybridization (CGH) for detecting and characterizing constitutional chromosome abnormalities. AJMG DOI=10.1002/ajmg.10593; 113:125-136, 2002. [PubMed: 12407702]Case 2:46,XX,del(6)(q14q15)de novoCase, born in 1988, ascertained because of short stature, severe MR with autistic-like features, hypotonia, ASD, and dysmorphic features (frontal bossing, protruding jaw, hypoplastic midface, brachycephalic, short philtrum, deep-seated eyes, and small mouth).Aberration: Interstitial deletionChromosomal Aneuploidy: 6q-Index Terms: CGH
- Roland B, Lowry R B, Cox D M, Ferreira P, Lin C C: Familial complex chromosomal rearrangement resulting in duplication/deletion of 6q14 to 6q16. Clin. Genet. 43:117-121, 1993. [PubMed: 8500257]Case 1:46,XY,t(6;15)(q16;q21)ins(3;16)(q12;q14q16).,Case 2:46,XX,der(3)ins(3;6)(q12;q14q16)mat.,Cases 3 and 4:46,XX or XY,der(3)ins(3;6)(q12;q14q16)mat.Aberration: ST,IXChromosomal Aneuploidy: 6q+Index Terms: Complex chromosomal rearrangementPositive band
- Rousseaux S, Chevret E, Monteil M, Cozzi J, Pelletier R, Devillard F, Lespinasse J, Sele B.: Meiotic segregation in males heterozygote for reciprocal translocations: analysis of sperm nuclei by two and three colour fluorescence in situ hybridization. Cytogenet. Cell Genet. 71:240-246, 1995. [PubMed: 7587385]Subjects D and J were siblings.46,XY,der t(6;11)(q14;p14)mat.Subject D''s wife had four miscarriages.Aberration: Reciprocal translocationIndex Terms: Meiotic ... segregationPositive band
- Turleau C, Demay G, Cabanis M O, Lenoir G, de Grouchy J: 6q1 monosomy: a distinctive syndrome. Clin. Genet. 34:38-42, 1988. [PubMed: 3409537]46,XX,del(6)(q14q16.2).Parental karyotypes were normal.Aberration: Interstitial deletionChromosomal Aneuploidy: 6q-Positive band
- Valtat C, Galliano D, Mettey R, Toutain A, Moraine C: Monosomy 6q: report on four new cases. Clin. Genet. 41:159-166, 1992. [PubMed: 1563091]Case 1: G.F.46,XY,del(6)(q14q16).At age 9 years with mental retardation, severe language deficit and short stature, and at 11 years of age with height and microcephaly as the criteria the patient was karyotyped.Case 2: M.R.46,XY,del(6)(q14q16)de novo.Patient had MCA/MR and was karyotyped again at age of 3 years.Aberration: Interstitial deletionChromosomal Aneuploidy: 6q-Positive band
- PubMedLinks to PubMed
- 06q140 - Chromosomal Variation in Man06q140 - Chromosomal Variation in Man
- Related Structures (List) for Protein (Select 81295421) (131)Structure
- Model organism or animal sample from Ochotona princepsModel organism or animal sample from Ochotona princepsbiosample
- BioSample links for Nucleotide (Select 1906886860) (1)BioSample
- Lactiplantibacillus plantarum strain MP8A 16S ribosomal RNA gene, partial sequen...Lactiplantibacillus plantarum strain MP8A 16S ribosomal RNA gene, partial sequencegi|2186315771|gb|OM462496.1|Nucleotide
Your browsing activity is empty.
Activity recording is turned off.
See more...