06p210

6p21

Publication Details

  • Atkin J F, 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. 1754.
    46,XX,inv(6)(p21p23)mat.
    Aberration: Inversion paracentric
    Negative band

  • Benn P A, Hsu L Y F: Evidence for preferential involvement of chromosome bands 6p21 and 13q14 in amniotic fluid cell balanced translocation pseudomosaicism. Clin. Genet. 29:116-121, 1986. [PubMed: 3955861]
    Negative band

  • Bogart M H, Bradshaw C L, Jones O W, Schanberger J E: Prenatal diagnosis and follow up of a child with a complex chromosome rearrangement. J. Med. Genet. 23:180-183, 1986. [PMC free article: PMC1049579] [PubMed: 3712398]
    Balanced rearrangements may be related to the slow developmental progress.
    46,XX,t(6;11)(p21;q21),t(11;21)(q21;p13), inv(6)(p21q11).
    Aberration: PI,ST
    Negative band

  • Same entry as in 02p250,02q360,04p150 (Boue and Gallano, 1984).

  • 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(6;7)(p21;q35); t(6;13)(p21;q14); t(6;14)(p21;q32); t(6;22)(p21;q12); inv(6)(p21p25).
    Aberration: IP,RT
    Negative band

  • Breuning M H, Bijlsma J B, de France H F: "Partial trisomy 6p due to familial translocation t(6;20)(p21;p13)." Hum. Genet. 38:7-13, 1977. [PubMed: 903156]
    Breuning M H, van den Berg-Loonen E M, Bernini L F, Bijlsma J B, van Loghem E, Khan P M, Nijenhuis L E: Localization of HLA on the short arm of chromosome 6. Hum. Genet. 37:131-139, 1977. [PubMed: 885534]
    46,XX and XY,t(6;20)(p21;p13)mat and pat.,46,XX,-20,+der(20),t(6;20)(p21;p13)pat.,46,XX,-20,+der(20),t(6;20)(20qter->20p13::6p21->6pter)pat.,A partial trisomy 6p syndrome is postulated, after comparison with five other cases, characterized by: low birth weight, psychomotor retardation, craniofacial abnormalities (such as high prominent forehead, large fontanel, wide sagittal suture, blepharoptosis, low-set and/or malformed ears), congenital heart malformation, small kidneys, and proteinuria. Eleven balanced translocations in four generations are described. A detailed gene marker study revealed a close linkage between the HLA genes and the breakpoint on the short arm of 6. Peak lod score was 2.9 with recombination value of 0.05. Therefore, HLA is thought to be situated in 6p21 close to the transition point to 6p22.
    Aberration: Simple translocation
    Index Terms: Blepharophimosis,Congenital heart defects (cardiovascular anomalies),Ears ... accessory,Facial dysmorphism,Forehead ... prominent
    Negative band

  • Bull R W, Benson J W, Pearson G, Mann J D: HLA substantiation of a trisomic human chromosome 6. Transplantation Proc. 10:747-748, 1978. [PubMed: 734744]
    Pearson G, Mann J D, Bensen J, Bull R W: Inversion duplication of chromosome 6 with trisomic codominant expression of HLA antigens. AJHG 31:29-34, 1979. [PMC free article: PMC1685673] [PubMed: 433922]
    46,XY,inv(6)(p21q27).,46,XY,inv(6)(pter->p21::q27->p21::q27->qter).,46,XX and XY,der inv(6)(p21q27)mat and pat.
    Proband 251177 died 2 months later. The clinical and pathologic characteristics included facial dysmorphia, cranial synostosis, micropthalmia and blepharophimosis, multiple hemangiomas of the skin, talipes equinovarus, persistent ductus arteriosus, absence of uterus and upper vagina, polymicrogyria, and arrhinencephaly. The gonadal development was ovarian in origin. Pericentric inversion was present in four generations. Frozen cells are available.
    46,XX,rec(6)dup 6pter -> 6p21, inv(6)(p21q27)pat.
    Aberration: Inversion pericentric
    Index Terms: Arhinencephaly,Blepharophimosis,Craniosynostosis,Eye ... microphthalmia,Facial dysmorphism,Foot ... talipes equinovarus (club foot),Hemangioma,Microphthalmia,Polymicrogytia,Uterus ... absence of,Vagina ... absence of
    Negative band

  • Byrd J R, 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. 1256.
    46,XY,inv(6)(p21q13)mat.
    Aberration: Inversion pericentric
    Negative band

  • Chiyo H A, Kuroki Y, Matsui I, Yanagida K, Nakagome Y: A 6p trisomy detected in a family with a ''giant satellite.'' Humangenetik 30:63-67, 1975. [PubMed: 1184005]
    46,XY,rcp(6;15)(p21;p12 or p13).&"46,XY,rcp(6;15)(6qter -> 6p21::15p12 or 13 -> 15pter;15qter -> 15p12 or 13::6p21 -> 6pter)."
    Case No. NIG (1917) in this report.
    46,XX,-15,+der(15)rcp(6;15)(p21;p12 or p13)pat.&Chromosome region which appeared like a giant satellite on 15 was in fact a translocated portion of chromosome 6.
    Aberration: Reciprocal translocation
    Negative band

  • Daniel A: Structural differences in reciprocal translocations. Potential for a model of risk in rcp. Hum. Genet. 51:171-182, 1979. [PubMed: 511145]
    Daniel A, Stewart L, Saville T, Brookwell R, Paull H, Purvis-Smith S, Lam-Po-Tang P R L C: Prenatal diagnosis in 3,000 women for chromosome, X-linked, and metabolic disorders. AJMG 11:61-75, 1982. [PubMed: 7065004]
    Registry No. 1523/77 in this report.
    46,XX,t(6;13)(p21;q12).
    Aberration: Reciprocal translocation
    Index Terms: Metabolic disorders
    Negative band

  • Davis J R, Weinstein L, Veomett I C, Shenker L, Giles H R, Hauck L: Balanced translocation karyotypes in patients with repetitive abortion. Case study and literature review. Am. J. Obst. Gynecol. 144:229-233, 1982. [PubMed: 7051833]
    Case No. 27.
    46,XY,t(6;17)(p21;p13).
    Aberration: Simple translocation
    Index Terms: Fetal wastage (Habitual recurrent, spontaneous abortion)
    Negative band

  • Fineman R, Morgan M, 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. 659
    46,XY,t(6;10)(p21;q26)pat.
    Aberration: Reciprocal translocation
    Negative band

  • Gelb B D, Cooper E, Shevell M, Desnick R J.: Genetic mapping of the cleidocranial dysplasia (CCD) locus on chromosome band 6p21 to include a microdeletion. AJMG 58:200-205, 1995. [PubMed: 8533817]
    Two multigeneration families were studied.
    It is suggested that the gene for CCD lies within the microdeletionat D6S459.
    Aberration: Interstitial deletion
    MIM#: 119600
    Chromosomal Aneuploidy: 6p-
    Index Terms: Cleidocranial dysplasia
    Negative band

  • Gribble S M, Prigmore E, Burford D C, Porter K M, Ng B L, Douglas E J, Fiegler H, Carr P, Kalaitzopoulos D, Clegg S, Sandstrom R, Temple I K, Youings S A, Thomas N S, Dennis N R, Jacobs P A, Crolla J A, Carter N P.: The complex nature of constitutional de novo apparently balanced translocations in patients presenting with abnormal phenotypes. J. Med. Genet. 42:8-16, 2005. [PMC free article: PMC1735914] [PubMed: 15635069]
    Case A2:
    46,XY,inv(6)(p21.3;q22.2)t(6;17)(p21;q23)de novo.ish inv(6)(204E9st,519H8sp,295F4mv,12F17sp,RP1-48N10sp,357H15st)t(6;11;17)(Rp1-69D17sp,RP1-259A10sp;84E24sp;172C16sp).
    Patient referred at birth because of cleft palate, micrognathia, low set ears, single palmar crease, and overriding fifth toe. At age 12, he had learning difficulties and attended special school. He had epilepsy, multiple epihysial dysplasia (with wheel chair use), and conductive hearing loss.
    Aberration: PI,RT,CT

  • Matsuda T, Nonomura M, Okada K, Hayashi K, Yoshida O: Cytogenetic survey of subfertile males in Japan. Urol. Internat. 44:194-197, 1989. [PubMed: 2800053]
    46,XY,inv(6)(p21q21).
    Male with azoospermia was studied.
    Aberration: Inversion pericentric
    Index Terms: Azoospermia
    Negative band

  • McBreen P, Engel E, Croce C M: Assignment of the gene for glyoxalase I to region p21 to pter of human chromosome 6. Cytogenet. Cell Genet. 19:208-214, 1977. [PubMed: 598251]
    46,XY,t(6;17)(p21;p13).&A patient is reported with this translocation, and the cell line was used in gene mapping study.
    Aberration: Simple translocation
    MIM#: 138750
    Negative band

  • Mellman W J: Personal communication, 1978.
    46,XX,t(6;13)(6qter -> 6p21::13q34 -> 13qter;13pter -> 13q34::6p21 -> 6pter),t(15;17)(q15;p13).
    Aberration: Double translocation
    Negative band

  • Nielsen J, Krag-Olsen B: Follow-up of 32 children with autosomal translocations found among 11,148 consecutively newborn children from 1969 to 1974. Clin. Genet. 20:48-54, 1981. [PubMed: 7296948]
    Nielsen J, Rasmussen K: Autosomal reciprocal translocations and 13/14 translocations: A population study. Clin. Genet. 10:161-177, 1976. [PubMed: 786515]
    Case No. 14,047 in this report.
    46,XX,t(6;13)(p21;q14).&"46,XX or XY,der(6)der(13)t(6;13)(p21;q14)mat and pat."
    Aberration: Simple translocation
    Negative band

  • Phelan M C, Albiez K, Stevenson R E: Trisomy 6p due to a tandem duplication. Proc. Greenwood Genet. Ctr. 5:39-43, 1986.
    Case D.W.(GGC-6139).
    46,XX,inv dup(6)(p21 -> pter),inv(9)(p13q13).
    Aberration: Duplication
    Chromosomal Aneuploidy: 6p+
    Negative band

  • Priest J H, 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. 1755.
    46,XY,inv(6)(p21p24)pat.
    Aberration: Inversion paracentric
    Negative band

  • Rudnik-Schoneborn S, Schubert R, Majewski F, Haverkamp F, Schwanitz G.: Partial trisomy 6p from a de novo translocation (6;18) with variable mosaicism in different tissues. Clin. Genet. 52:126-129, 1997. [PubMed: 9298749]
    Skin=46,XX,der(18)t(6;18)(18qter->18p11::6p21->6pter)de novo in 20 metaphases.,Blood=46,XX[21] at 4 months of age; and at 18 months of age, 6% of cells in 100 mitoses were abnormal.
    Aberration: Reciprocal translocation
    Chromosomal Aneuploidy: 6p+
    No band

  • Schwanitz G, Zerres K, Schuler H: Homozygosity of a 6/18 translocation in a hydatidiform mole. Ann. Genet. 33:117-119, 1990. [PubMed: 2241086]
    46,XX,-6,-6,-18,-18,+t(6;18)(p21;q11),+t(6;18)(p21;q11).
    The mole consisted of small vesicles, vascularisation was completely missing, and they did not show normal branching.
    Aberration: Reciprocal translocation
    Index Terms: Homozygosity
    Negative band

  • Shapiro L R, 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. 693
    46,XY,t(6;16)(p21;p11).
    Aberration: Reciprocal translocation
    Negative band

  • Tierney I, Axworthy D, Smith L, Ratcliffe S G: Balanced rearrangements of the autosomes: results of a longitudinal study of a newborn survey population. J. Med. Genet. 21:45-51, 1984. [PMC free article: PMC1049205] [PubMed: 6694184]
    46,XX or XY,inv(6)(p21q21).
    Aberration: Inversion pericentric
    Negative 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,XX,t(6;22)(p21;q13).
    46,XY,t(6;8)(p21;q22).
    46,XY,t(6;9)(p21;p15.2).
    Aberration: Reciprocal translocation
    Negative band