06p120

6p12

Publication 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(6;10)(p12;q26).
    Aberration: Reciprocal translocation
    Positive band

  • Daikha-Dahmane F, Huten Y, Morvan J, Szpiro-Tapia S, Nessmann C, Eydoux P.: Fetus with Casamassima-Morton-Nance syndrome and an inherited (6;9) balanced translocation. AJMG 80:514-517, 1998. [PubMed: 9880219]
    46,XX,t(6;9)(p12;q12)
    Fetal anomalies were detected because of severe oligohydramnios. Ultrasound examination showed cranio-facial anomalies, narrow thorax and abdominal distention.
    MIM#: 271520
    Index Terms: Casamassima-Morton-Nance syndrome

  • Fryns J P, Kleczkowska A, Van den Berghe H: Paracentric inversions in man. Hum. Genet. 73:205-213, 1986. [PubMed: 3733076]
    Family No. 14.
    46,XY,inv(6)(p12p24).
    Aberration: Inversion paracentric
    Positive band

  • Ioan D M, Dumitriu L, Museteanu P, Ioanitiu D, Pop T, Maximilian C: Cytogenetic investigation in 300 couples with recurrent fetal wastage. Romanian J. Med. 25:145-148, 1987. [PubMed: 3685845]
    46,XY,inv(6)(p12q21).
    Aberration: Inversion pericentric
    Positive band

  • Midro A T, Stengel-Rutkowski S, Stene J: Experiences with risk estimates for carriers of chromosomal reciprocal translocations. Clin. Genet. 41:113-122, 1992. [PubMed: 1563084]
    Family 5: Patient W.M.
    45,X,t(6;7)(p12;q32)pat.
    The 16 year old school girl had Turner syndrome features.
    Risk estimates for carriers detected among couples with reproductive failures are presented.
    Aberration: Reciprocal translocation
    Positive band

  • Narahara K, Tsuji K, Yokoyama Y, Seino Y.: Cleidocranial dysplasia associated with a t(6;18)(p12;q24) translocation. AJMG 56:119-120, 1995. [PubMed: 7747775]
    46,XX,t(6;18)(p12;q24).
    Patient was 22-month-old and was evaluated for left facial palsy.
    Aberration: Simple translocation
    MIM#: 119600
    Index Terms: Cleidocranial dysplasia
    Positive 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 5:46,XY,del(6)(p12p12)de novo,der(15p variant)mat
    Case, born in 1992, was ascertained because the variant 15p. He had attention deficit disorder (without hyperactivity), subnormal auditive perception with delayed language development, and motorically clumsy.
    Aberration: Interstitial deletion
    Chromosomal Aneuploidy: 6p-
    Index Terms: CGH

  • Phelan M C, 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. 1752.
    46,XY,inv(6)(p12p25)pat.
    Aberration: Inversion paracentric
    Positive band

  • Schmidt A: The phenotype in de novo and familial pericentric inversion 6. A problem in karyotype-phenotype correlation. Hum. Genet. 61:167-170, 1982. [PubMed: 7129445]
    Patient was 15 months old and had several dysmorphic features (SvMo 111076/78E0070).
    46,XX,inv(6)(p12q15).
    Aberration: Inversion pericentric
    Positive band

  • Schmidt 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. 1751.
    46,XY,inv(6)(p12p24)pat.
    Aberration: Inversion paracentric
    Positive band

  • Schonberg S, Golbus M S, 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. 651
    46,XY,t(6;9)(p12;q33)pat.
    Aberration: Reciprocal translocation
    Positive band

  • Shears C W, 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. 1750.
    46,XY,inv(6)(p12p23)pat.
    Aberration: Inversion paracentric
    Positive band

  • Uchida I A, Freeman V C P: Trisomy 21 Down syndrome. II. Structural chromosome rearrangements in the parents. Hum. Genet. 72:118-122, 1986. [PubMed: 2935479]
    Family No. 5.
    47,XX,+21,t(6;17)(p12;q25)pat?
    Aberration: Simple translocation
    Index Terms: Down syndrome (Trisomy 21)
    Positive band

  • Villa A, Gal+ín Gomez E , Rodr+¡guez L, Hern+índez Rastrollo R, Mart+¡nez Tallo M E, Mart+¡nez-Fr+¡as M-L.: Interstitial tandem duplication of 6p: a case with partial trisomy (6)(p12p21.3). AJMG 90:369-375, 2000. [PubMed: 10706357]
    The proband was identified through the Spanish collaborative study of congenital malformations. He was 7 months old with growth retardation, psychomotor delay and craniofacial, brain, limb, and genital anomalies.
    46,XY,dup(6)(p12p21.3)de novo
    Aberration: Duplication
    Chromosomal Aneuploidy: 6p+

  • 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(6;8)(p12;q21).
    Aberration: Reciprocal translocation
    Positive band