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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-.
Chromosomal Variation in Man: A Catalog of Chromosomal Variants and Anomalies: Online NLM Version [Internet].
Show details- 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,REChromosomal 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 translocationNegative 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 translocationIndex Terms: Risk estimatesNegative 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,RTNegative 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 deletionChromosomal Aneuploidy: 6p-Index Terms: HypoprolactinemiaNegative 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. 67546,XY,t(6;13)(p23;q22)mat.Aberration: Reciprocal translocationNegative 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,TDChromosomal 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 translocationNegative 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 translocationChromosomal 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 deletionChromosomal 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 deletionChromosomal 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 deletionChromosomal Aneuploidy: 6p-Index Terms: High resolution G-bandingNegative 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 translocationIndex Terms: OligophreniaNegative 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 sitesNegative 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 deletionChromosomal 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 deletionChromosomal 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 translocationChromosomal 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 translocationIndex Terms: Patau syndrome (trisomy 13),Scalp defectsNegative 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 translocationIndex 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 translocationNegative 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 translocationNegative 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 translocationIndex Terms: Blepharophimosis,Facial dysmorphism,Lips ... thinNegative 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,REChromosomal 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 pericentricMIM#: 180500Index Terms: Strabismus,ColobomaNegative band
- 06p230 - Chromosomal Variation in Man06p230 - Chromosomal Variation in Man
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