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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-.

Cover of Chromosomal Variation in Man

Chromosomal Variation in Man: A Catalog of Chromosomal Variants and Anomalies: Online NLM Version [Internet].

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06p230

6p23
  • Anderlid B-M, Schoumans J, Anneren G, Sahlen S, Kyllerman M, Vujic M, Hagberg B, Blennow E, Nordenskjold M.: Subtelomeric rearrangements detected in patients with idiopathic mental retardation. AJMG 107:275-284, 2002. [PubMed: 11840483]
    Patients 5a and b:
    Father=46,XY,inv(6)(p23q27).,46,XY,rec(6)dup(6p)inv(6)(p23q27).,46,XX,rec(6)dup(6p)inv(6)(p23q27).
    The children had dymorphic features and were autistic.
    Aberration: PI,RE
    Chromosomal Aneuploidy: 6p+;6q-
  • Anton E, Blanco J, Egozcue J, Vidal F.: Risk assessment and segregation analysis in a pericentric inversion inv(6)(p23q25) carrier using FISH on decondensed sperm nuclei. Cytogenet. Genome Res. 97:149-154, 2002. [PubMed: 12438704]
    The 37-year-old was ascertained due to recurrent miscarriage.
    46,XY,inv(6)(p23q25)
    Aberration: PI,RE
  • Aurias A, Prieur M, Dutrillaux B, Lejeune J: Systematic analysis of 95 reciprocal translocations of autosomes. Hum. Genet. 45:259-282, 1978. [PubMed: 738728]
    Patient I.P. No. 12933 in this report.
    46,XX,t(6;18)(p23;q21).&"46,XX,t(6;18)(6qter -> 6p23::18q21 -> 18qter;18pter -> 18q21::6p23 -> 6pter)."
    Aberration: Reciprocal translocation
    Negative band
  • Barisic I, Zergollern L, Muzinic D, Hitrec V.: Risk estimates for balanced reciprocal translocation carriers - prenatal diagnosis experience. Clin. Genet. 49:145-151, 1996. [PubMed: 8737980]
    Family No. 19:
    t(6;13)(p23;q34)pat.
    Family ascertained because of spontaneous abortion.
    Aberration: Reciprocal translocation
    Index Terms: Risk estimates
    Negative band
  • 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]
    Boue J, Boue A, Girard S, Thepot F: Diagnostic prenatal des anomalies chromosomiques. Arch. Fr. Ped. 33:653-664, 1976. [PubMed: 999438]
    t(6;7)(p23;q22); t(6;8)(p23;q12); t(6;11)(p23;p15); t(6;13)(p23;q22); t(6;18)(p23;q2); inv(6)(p23q16).&"46,XX,t(6;18)(p23;q21)."
    Aberration: PI,RT
    Negative band
  • D''Alessandro E, Santiemma V, Lo Re M L, Ligas C, Del Porto G: 6p23 deletion mosaicism in a woman with recurrent abortions and idiopathic hypoprolactinemia. AJMG 44:220-222, 1992. [PubMed: 1456295]
    mos46,XX/46,XX,del(6)(qter -> p23:)(11%).
    The patient had a history of recurrent abortions, idiopathic hypoprolactinemia.
    It is hypothesized that the breakpoint in the deleted chromosome is at the fragile site.
    Aberration: Terminal deletion
    Chromosomal Aneuploidy: 6p-
    Index Terms: Hypoprolactinemia
    Negative band
  • Daniel A, 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. 675
    46,XY,t(6;13)(p23;q22)mat.
    Aberration: Reciprocal translocation
    Negative 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 91-145:
    46,XX,del(6)(p23p24.3)
    Case 95-800:
    46,XY,del(6)(p23p24.2).
    Aberration: ID,TD
    Chromosomal Aneuploidy: 6p-
  • 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;13)(p23;q14).
    Aberration: Reciprocal translocation
    Negative band
  • Delatycki M B, Voullaire L, Francis D, Petrovic V, Robertson A, Webber L M, Slater H R.: Directly inherited partial trisomy of chromosome 6p identified in a father and daughter by chromosome microdissection. J. Med. Genet. 36:335-338, 1999. [PMC free article: PMC1734348] [PubMed: 10227406]
    Proband was a 4 year old girl referred because of dysmorphic features and developmental delay.
    Proband=46,XX,der(20)t(6;20)(p23;p13)pat.,Father=46,XY,add(20)(p13)de novo.
    Father had passed intermediate high school and was working profitably.
    Aberration: Simple translocation
    Chromosomal Aneuploidy: 6p+;20p-
  • Jalal S M, Macias V R, Roop H, Morgan F, King P: Two rare cases of 6p partial deletion. Clin. Genet. 36:196-199, 1989. [PubMed: 2477178]
    Two cases are reported.
    46,XX and XY,del(6)(qter -> p23:).
    Features are short forehead, borderline microcephaly, low-set malformed ears, hyperplastic nares, dental anomalies, and short terminal phalanges.
    One case is de novo and the other''s mother has not been karyotyped.
    Aberration: Terminal deletion
    Chromosomal Aneuploidy: 6p-
    Negative band
  • Kormann-Bortolotto M H, Farah L M S, Soares D, Corbani M, Muller R, Adell A C A: Terminal deletion 6p23: a case report. AJMG 37:475-477, 1990. [PubMed: 2260591]
    46,XX,del(6)(qter -> p23:)de novo.
    Aberration: Terminal deletion
    Chromosomal Aneuploidy: 6p-
    Negative band
  • Mascarello J T, Hubbard V: Routine use of methods for improved G-band resolution in a population of patients with malformations and developmental delay. AJMG 38:37-42, 1991. [PubMed: 2012130]
    46,XY,del(6)(p23p21.33).
    Aberration: Interstitial deletion
    Chromosomal Aneuploidy: 6p-
    Index Terms: High resolution G-banding
    Negative band
  • Mounoud R L, Klein D, Bettschart W, Cabrol D: A clinical and cytogenetic investigation carried out in a special institution for mentally retarded patients. Preliminary results concerning 82 cases of oligophrenia. J. Genet. Hum. 24:297-335, 1976. [PubMed: 1022853]
    Case No. 1: F. Rosa (000091) obs. 74-0228, 84-year-old in this report.
    mos46,XX/46,XX,t(6;17)(p23;q12).
    Aberration: Simple translocation
    Index Terms: Oligophrenia
    Negative band
  • Mulley J C, Hay J, Sheffield L J, Sutherland G R: Regional localization for HLA by recombination with a fragile site at 6p23. AJHG 35:1284-1288, 1983. [PMC free article: PMC1685972] [PubMed: 6650505]
    Sutherland G R, Jacky P B, Baker E G, Manuel A: Heritable fragile sites on human chromosomes. X. New folate-sensitive fragile sites: 6p23, 9p21, 9q32, and 11q23. AJHG 35:432-4437, 1983. [PMC free article: PMC1685660] [PubMed: 6859039]
    Aberration: Fragile sites
    Negative band
  • Palmer C G, Bader P, Slovak M L, Comings D E, Pettenati M J: Partial deletion of chromosome 6p: delineation of the syndrome. AJMG 39:155-160, 1991. [PubMed: 2063917]
    Five patients were studied.
    46,XX and XY,del(6)(p23 -> pter)de novo.
    The characteristics of the syndrome include MR, microcephaly, abnormal sutures, broad nasal bridge, short neck with excess skin folds, and a normal birth weight and length.
    Aberration: Terminal deletion
    Chromosomal Aneuploidy: 6p-
    Negative band
  • Plaja A, Vidal R, Soriano D, Bou X, Vendrell T, Mediano C, Pueyo J Ma, Labrana X, Sarret E.: Terminal deletion of 6p: report of a new case. Ann. Genet. 37:196-199, 1994. [PubMed: 7710255]
    46,XX,del(6)(qter->p23:)de novo.
    The 3 1/2 year old patient had psychomotor and growth retardation, VSD, PDA, bulging forehead, prominent philtrum, low nasal bridge, strabismus, miosis, and short neck among other anomalies.
    Aberration: Terminal deletion
    Chromosomal Aneuploidy: 6p-
    Negative band
  • R+¦thlisberger B, Kotzot D, Gnehm H E, Schinzel A.: "Essentially pure" partial trisomy (6)(p23->pter) in two brothers due to maternal t(6;17)(p23;p13.3). AJMG 85:389-394, 1999. [PubMed: 10398266]
    Mother=46,XX,t(6;17)(p23;p13.3).,Patients 1 and 2=46,XY,der(17)t(6;17)(p23;p13.3)mat.
    The 6p trisomy is characterized by low birth weight, growth retardation, microcephaly, and blepharophimosis, blepharoptosis, microstomia, and abnormal ears.
    The breakpoint was found to be between D17S379, the Miller-Dieker cosmid probe, and D17S34, a subtelomeric probe.
    Aberration: Reciprocal translocation
    Chromosomal Aneuploidy: 6p+;17p-
  • Schwanitz G, Schmid P, Berthold H J, Grosse K P: Partial trisomy 13 with clinical signs of Patau syndrome, resulting from a complex paternal rearrangement of chromosomes 6, 10 and 13. Ann. Genet. 21:100-103, 1978.
    46,XY,t(6;10;13)(p23;q11;q14).
    Proband Heike D. 211174 in this report.
    46,XX,der t(6;10;13)(p23;q11;q14)pat.&"46,XX,-6,-10,der(6)der(10)t(6;10;13)(6qter -> 6p23::10q11 -> 10qter;10pter -> 10q11::13q14 -> 13qter)pat."&One patient showed the main symptoms of Patau syndrome. However, other symptoms usually characteristic of trisomy 13 such as scalp abnormalities or heart disease were missing.
    Aberration: Complex translocation
    Index Terms: Patau syndrome (trisomy 13),Scalp defects
    Negative band
  • Schwartz S, Palmer C G: Chromosomal findings in 164 couples with repeated spontaneous abortions: with special consideration to prior reproductive history. Hum. Genet. 63:28-34, 1983. [PubMed: 6832778]
    46,XX,rcp(6;9)(p23;q32).
    Aberration: Reciprocal translocation
    Index Terms: Fetal wastage (Habitual recurrent, spontaneous abortion)
    Negative band
  • Sider D, Wilson W G, Sudduth K, Atkin J F, Kelly T E: Cytogenetic studies in couples with recurrent pregnancy loss. Southern Med. J. 81:1521-1524, 1988. [PubMed: 3201300]
    46,XX,t(6;18)(p23;q11.2).
    Aberration: Simple translocation
    Negative band
  • Stamberg J, Thomas G H: Unusual supernumerary chromosomes: types encountered in a refereed population, and high incidence of associated maternal chromosome abnormalities. Hum. Genet. 72:140-144, 1986. [PubMed: 3455921]
    Case 4:
    Mother: 46,XX,t(6;18)(p23;q12.3).&Patient: 47,+der(18)(18pter -> 18q12.3::6p23 -> 6pter)mat.
    Aberration: Reciprocal translocation
    Negative band
  • Turleau C, Chavin-Colin F, de Grouchy J: La trisomie 6p partielle. Ann. Genet. 21:88-91, 1978.
    46,XY,t(6;18)(p23;q21).&"46,XY,-18,+der(18)t(6;18)(p23;q21)pat."&"46,XY,-18,+der(18)t(6;18)(18pter -> 18q21::6p23 -> 6pter)pat."&Two-month-old male infant is trisomic 6p23 pter due -> paternal balanced translocation. Low birth weight, small size, persisting growth retardation, facial dysmorphism with blepharophimosis and blepharoptosis, a short and stubby nose, thin lips, and mental retardation.
    Aberration: Simple translocation
    Index Terms: Blepharophimosis,Facial dysmorphism,Lips ... thin
    Negative band
  • Same entry as in 05q130,02q110 (Warburton D, 1991).
  • Wauters J G, Bossuyt P J, Roelen L, van Roy B, Dumon J: Application of fluorescence in situ hybridization for early prenatal diagnosis of partial trisomy 6p/monosomy 6q due to a familial pericentric inversion. Clin. Genet. 44:262-269, 1993. [PubMed: 8313624]
    Family H.
    I-1:46,XX,inv(6)(p23q27).&II-2, II-6, & II-7:46,XX and XY,inv(6)(p23q27)mat.&III-1, III-3, & III-5:46,XX and XY,rec(6),dup p,def q,inv(6)(p23q27)mat.
    Aberration: PI,RE
    Chromosomal Aneuploidy: 6p+,6q-
    Negative band
  • Wenstrom K D, Muilenburg A C, Patil S R, Hanson J W: Unique phenotype associated with a pericentric inversion of chromosome 6 in three generations. AJMG 39:102-105, 1991. [PubMed: 1867252]
    Patient BS and his family.
    46,XX or XY,inv(6)(p23q23.1).
    Several altered features were present including congenital cataracts, hearing loss, dental anomalies, ear anomalies, premature graying, unilateral strabismus, coloboma, and mild mental retardation.
    Aberration: Inversion pericentric
    MIM#: 180500
    Index Terms: Strabismus,Coloboma
    Negative band
Copyright © 2011-2013, Digamber Borgaonkar.
Bookshelf ID: NBK106750
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