06p220

6p22

Publication Details

  • Ayme S, Mattei M G, Mattei J F, Giraud F: Abnormal childhood phenotypes associated with the same balanced chromosome rearrangements as in the parents. Hum. Genet. 48:7-12, 1979. [PubMed: 457136]
    Case, report No. 1 was 10 months old, presented with hypotonia and facial dysmorphism.
    46,XX,t(6;17)(p22;q22).&"46,XX,der(6)der(17)t(6;17)(p22;q22)mat."
    Aberration: Simple translocation
    Index Terms: Facial dysmorphism,Hypotonia
    Positive band

  • Bryndorf T, Kirchhoff M, Rose H, Maahr J, Gerdes T, Karhu R, Kallioniemi A, Christensen B, Lundsteen C, Philip J.: Comparative genomic hybridization in clinical cytogenetics. AJHG 57:1211-1220, 1995. [PMC free article: PMC1801381] [PubMed: 7485173]
    Sample V:
    46,XY,-6,-14,+der(6)t(6;14)(p22;q12),i(der14)t(6;14)(p22;q12)mat.
    Pregnancy terminated at 16th week.
    Aberration: Simple translocation
    Chromosomal Aneuploidy: 6p+
    Index Terms: CGH
    Positive band

  • Chen C-P, Chern S-R, Lee C-C, Chen W-L, Wang W.: Prenatal diagnosis of interstitially satellited 6p. Prenat. Diag. 24:430-433, 2004. [PubMed: 15229841]
    II-6=46,XY,t(6;14)(p22;p12).,II-5, II-12, and III-1=46,XX/XY,der(14)t(6;14)(p22;p12).,III-2=46,XX,der(6)t(6;14)(p22;p12).,III-5=46,XX,rec(6)ins(6;14)t(6;14)(6pter->6p22::14p12->14p12::6p22->6qter)pat.
    Patient III-1 had mental/psychomotor retardation, a broad nasal bridge with a bulbous nasal tip, a small mouth with thin lips, a high arched palate, and micrognathia.
    Three generation family with the translocation.
    Aberration: SA,RT,IX,RE
    Index Terms: Satellited 6p
    No band

  • Cote G B, Papadakou-Lagoyanni S, Sbyrakis S: "Partial trisomy 6p with karyotype 46,XY,der(22),t(6;22)(p22;q13)mat." J. Med. Genet. 15:479-481, 1978. [PMC free article: PMC1013766] [PubMed: 745220]
    46,XX,15ps+,t(6;22)(p22;q13).&"46,XY,-22,+der(22)t(6;22)(22pter -> 22q13::6p22 -> 6pter)mat."
    Aberration: Simple translocation
    Positive band

  • Davies A F, Mirza G, Sekhon G, Turnpenny P, Leroy F, Speleman F, Law C, van Regemorter N, Vamos E, Flinter F, Ragoussis J.: Delineation of two distinct 6p deletion syndromes. Hum. Genet. 104:64-72, 1999. [PubMed: 10071194]
    Characteristics of short neck, clinodactyly or syndactyly, brain, heart, and kidney defects are associated with deletions with 6p23-p24; and corneal opacities/iris coloboma/Rieger anomaly, hypertelorism and deafness with deletions of 6p25.
    Case JW:
    46,XY,del(6)(p22p24).
    Aberration: ID,TD
    Chromosomal Aneuploidy: 6p-

  • de Perdigo A, Gabriel-Robez O, Rumpler Y: Correlation between chromosomal breakpoint positions and synaptic behaviour in human males heterozygous for a pericentric inversion. Hum. Genet. 83:274-276, 1989. [PubMed: 2793171]
    Case 5 of Gabriel-Robez et al (1987) published in Andrologia 19:662-669.
    46,XY,inv(6)(p22q22).
    Patient was studied because of repeated miscarriages.
    Aberration: Inversion pericentric
    Positive band

  • Ferrando P, San Roman C, Rodriguez de Cordoba S, Anaiz-Villena A: "Partial trisomy 6p: 46,XX,-10,der(10),t(6;10)(p22;q26)pat and HLA localization." J. Med. Genet. 18:231-234, 1981. [PMC free article: PMC1048712] [PubMed: 7241548]
    46,XY,t(6;10)(p22;q26).&"46,XY,der(6)der(10)t(6;10)(p22;q26)pat."
    Patient, 060475, was 3 years old. The HLA complex loci are probably between 6p2105 and 6p224.
    Aberration: Simple translocation
    Positive band

  • Fryns J P, Kleczkowska A, Moerman F, Van den Berghe H: Partial distal 6p trisomy in a malformed fetus. Ann. Genet. 29:53-54, 1986. [PubMed: 3487278]
    Fryns J P, Petit P, Jaeken J, Eggermont E, Kleczkowska A, Van den Berghe H: Partial distal 6p trisomy: a clinical entity. Ann. Genet. 26:50-52, 1983.
    46,XX,t(6;22)(p22;q13).
    Patient K. W. was 3 months old.
    46,XX,-22,+der(22)t(6;22)(22pter -> 22q13::6p22 -> 6pter)mat.
    Aberration: Simple translocation
    Chromosomal Aneuploidy: 6p+
    Positive band

  • Giardino D, Finelli P, Caufin D, Gottardi G, Lo Vasco R, Turolla L, Larizza L.: Pure 6p22-pter trisomic patient: refined FISH characterization and genotype-phenotype correlation. AJMG DOI=10.1002/ajmg.10225; 108:36-40, 2002. [PubMed: 11857547]
    46,X,der(Y)t(Y;6)(q12;p22)[92]/45,X[8].
    The 22 year old was being evaluated for dysmorphic features and growth retardation.
    The breakpoint on chromosome 6p mapped beteween WI-7401 and WI 5592 STSs.
    Aberration: Simple translocation
    Chromosomal Aneuploidy: 6p+

  • Gouw W L, ten Kate L P, Anders G J P A: "A case of 18q- in a family with a translocation t(6p+;18q-), identified by the Giemsa-banding technique." Humangenetik 19:123-126, 1973. [PubMed: 4725908]
    46,XX,t(6;18)(p22;q12).&"46,XX,t(6;18)(6qter -> 6p22::18q12 -> 18qter;18pter -> 18q12::6p22 -> 6pter)."&"46,XX,der(6)der(18)t(6;18)(p22;q12)mat."&"46,XY,-18,+der(18)t(6;18)(p22;q12)mat."
    Aberration: Reciprocal translocation
    Positive band

  • Nakajima W, Sakemi K, Komatsu K, Okamura T.: Partial 6p trisomy with abnormal ABR and hypogenesis of the corpus callosum. Tohoku J. Exp. Med. 175:279-284, 1995. [PubMed: 7570585]
    46,XY,-21,+der(21)t(6;21)(21qter->21p13::6p22-6pter)mat.
    The 4 -month-old''s cranial magnetic resonance imaging (MRI) suggested hypoplastic corpus callosum and auditory brain stem response (ABR) revealed brain stem dysfunction.
    Mother was a carrier of the balanced translocation.
    Aberration: Simple translocation
    Chromosomal Aneuploidy: 6p+
    Index Terms: Corpus callosum,Hypogenesis
    Positive band

  • Patsalis P C, Evangelidou P, Charalambous S, Sismani C.: Fluorescence in situ hybridization characterization of apparently balanced translocation reveals cryptic complex chromosomal rearrangements with unexpected level of complexity. Europ. J. Hum. Genet. 12:647-653, 2004. [PubMed: 15162125]
    Case 20=46,XX,t(6;8,12)(p22.2;q24.3;q13.1).,Revised=46,XX,der(6)t(6;12;7;8;12)(p22;p11.2;q32.3;q24.21;q13)ins(6;7)(p22;q32.3q33)ins(6;8)(p22;q24.21q24.22)de novo.
    One member in the family with apparently normal karyotype has malformations and MR.
    Aberration: Complex translocation
    Index Terms: FISH-CCRs

  • Portnoi M F, Joye N, Van den Akker J, Morlier G, Taillemite J L: Karyotypes of 1142 couples with recurrent abortion. Obst. Gynecol. 72:31-34, 1988. [PubMed: 3242501]
    46,XY,inv(6)(p22q24).
    Aberration: Inversion pericentric
    Positive band

  • Rosi G, Venti G, Bruschelli G M, Donti E, Bocchini V, Armellini R: "Trisomy 6p22 to 6pter due to familial t(6;13)(p22;q34 or 33) translocation." Hum. Genet. 51:67-72, 1979. [PubMed: 500094]
    Individual II-10 in the pedigree.
    46,XX,t(6;13)(p22;q34 or 33).
    Individual III-19 in the pedigree.
    46,XY,der(6)der(13)t(6;13)(p22;q34 or q33)mat.
    Individual IV-15 in the pedigree.
    46,XX,der(6)der(13)t(6;13)(p22;q34 or q33)pat.
    Patient, E. G., IV-18, in the pedigree. Phenotype conforms to 6p partial trisomy syndrome.
    46,XY,der(13)t(6;13)(p22;q34 or q33)pat.
    Aberration: Simple translocation
    Positive 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,inv(6)(p22q21).
    Aberration: Inversion pericentric
    Positive band