NCBI Bookshelf. A service of the National Library of Medicine, National Institutes of Health.
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- Al Husain M, Zaki O K.: A survey of 1,000 cases referred for cytogenetic study to King Khalid University hospital, Saudi Arabia. Hum. Hered. 49:208-214, 1999. [PubMed: 10436383]Case referred because of four repeated abortions.46,XX,t(7;11)(p13;q24).Aberration: Reciprocal translocation
- Al-Kouatly H B, Chasen S T, Gilbert F, Ahner R, Alonso L M, Chervenak F A.: Correlation between rare chromosomal abnormalities and prenatal ultrasound findings. AJMG 10.1002/ajmg.10130;107:197-200, 2002. [PubMed: 11807899]Case 5=46,XX,del(7)(p13p15)mat.Mother was 31 years old. Fetal ultrasound showed thickened nuchal transluceny. D & E was performed, polydactyly of the feet was noted.Aberration: Interstitial deletionChromosomal Aneuploidy: 7p-Index Terms: Thickened nuchal translucency
- Barbi G, Steinbach P, Vogel W: Nonrandom distribution of methotrexate-induced aberrations on human chromosomes. Detection of further folic acid sensitive fragile sites. Hum. Genet. 68:290-294, 1984. [PubMed: 6239815]Aberration: Fragile sitesNegative band
- Batanian J, Brun B, Chandley A C, Croquette M F, Delafontaine D, Gabriel-Robez O, Guichaoua M R, Hargreave T B, Hulten M A, Jaafar H, Johannisson R, Lohrs U, Luciani J M, McBeath S, Noel B, Passarge E, Perdigo A de, Quack B, Rigot J M, Rumpler Y, Saadallah N, Schwinger E, vom Ende U, Wolff H.: The meiotic pairing behaviour in human spermatocytes carrier of chromosome anomalies and their repercussions on reproductive fitness. II. - Robertsonian and reciprocal translocations. A European collaborative study. Ann. Genet. 39:17-25, 1996.Case from Dr. Noel''s laboratory.46,XY,t(7;9)(p13;p25)[Band 9p25 does not exist in the ISCN (1995)].Ascertained from subfertility clinic, infertile at 45 years of age.Fully paired with XY bivalent 13/60.Aberration: Reciprocal translocationIndex Terms: SpermatocytesNo band
- Bianchi D W, Cirillo-Silengo M, Luzzatti L, Greenstein R M: Interstitial deletion of the short arm of chromosome 7 without craniosynostosis. Clin. Genet. 19:456-461, 1981. [PubMed: 7296937]Case 1 was 12 months old; parents had normal karyotypes; and has failure to thrive, retardation in development, normal head circumference with ridged metopic suture, blepharophimosis, epicanthal folds, mild hypertelorism, small low-set ears, and a bifid right toe.46,XX,del(7)(7qter -> 7p13::7p15 -> 7pter).Case 2 was 2 months old; mother had a normal karyotype; and has a normal weight, length, and head circumference, blepharophimosis, epicanthal folds, widely spaced nipples, enlarged clitoris, and very large hands and feet.46,XX,del(7)(7qter -> 7p13::7p15to 7pter).Aberration: Interstitial deletionIndex Terms: Blepharophimosis,Clitoris ... anomalies,Ears ... accessory,Epicanthal folds,Foot ... anomalies,Hand ... anomalies,HypertelorismNegative band
- Bommer C, Thiel G, Ignatow K R: Familiare balancierte translokation 7/10 bei einem kind mit multiplen fehlbildungen. Z. Klin. Med. 46:455-457, 1991.Patient C. P., III-2 in the pedigree.46,XX,t(7;10)(p13;q22)mat.Patient had multiple congenital malformations and died.The same balanced familial translocation was found in five healthy family members.Aberration: Reciprocal translocationNegative 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]t(7;13)(p13;q34); t(7;21)(p13;p11); t(7;22)(p13;q11); inv(7)(p13q21).Aberration: PI,RTNegative band
- Bowser-Riley S M, Griffiths M J, Creasy M R, Farndon P A, Martin K E, Thomson D A G, Larkins S A, Johnson R A, Watt J L: Are double translocations double trouble? J. Med. Genet. 25:326-331, 1988. [PMC free article: PMC1050459] [PubMed: 3290489]Family and Pedigree No. 846,XY,dir ins(13;1)(q34;p31.2p32.3),t(7;12)(p13;p13).Child with ambiguous genitalia, de novo translocations.Aberration: Reciprocal translocationNegative band
- Brueton L, Huson S M, Winter R M, Williamson R: Chromosomal localisation of a developmental gene in man: Direct DNA analysis demonstrates that Grieg cephalopolysyndactyly maps to 7p13. AJMG 31:799-804, 1988. [PubMed: 3239571]MIM#: 175700Index Terms: CephalopolysyndactylyNegative band
- Cantu J M, Rivas F, Ruiz C, Barajas L O, Moller M, Rivera H: Trisomy 7p due to a mosaic normal/dir dup(7)(p13 to p22). Syndrome delineation, critical segment assignment, and a comment on duplications. Ann. Genet. 28:254-257, 1985. [PubMed: 3879442]mos46,XX/46,XX,dir dup(7)(p1300 -> p2200).Aberration: Direct duplicationNegative band
- Chotai K A, Brueton L A, van Herwerden L, Garrett C, Hinkel G K, Schinzel A, Mueller R F, Speleman F, Winter R M: Six cases of 7p deletion: clinical, cytogenetic, and molecular studies. AJMG 51:270-276, 1994. [PubMed: 7521123]Case a:46,XY,del(7)(p13).Case b:46,XY,del(7)(p15p21.2).Case e:46,XY,del(7)(p15.1p21).Case f:46,XX,del(7)(p15p22).Aberration: Terminal deletionChromosomal Aneuploidy: 7p-Negative band
- Cooledge J W, Beatty-De Sana J W, Hoggard M J: "The occurrence of a translocation (7;14) which has been associated with ataxia-telangiectasia in cytogenetic studies of spontaneous chromosomal aberrations in human leucocyte culture." AJHG 26:23A, 1974.46,XX,t(7;14)(p13;q12 or q13).Aberration: Simple translocationIndex Terms: Ataxia-telangiectasiaNegative band
- 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(7;9)(p13;q24).Aberration: Reciprocal translocationNegative band
- Estop A M, Marquez C, Munne S, Navarro J, Cieply K, Van Kirk V, Martorell M R, Benet J, Templado C.: An analysis of human sperm chromosome breakpoints. AJHG 56:452-460, 1995. [PMC free article: PMC1801134] [PubMed: 7847382]A positive significant correlation was found between sperm breakpoints and sites of balanced chromosome de novo rearrangements detected at prenatal diagnosis.
Navarro J, Benet J, Martorell M R, Templado C, Egozcue J: Segregation analysis in a man heterozygous for a pericentric inversion of chromosome 7 (p13q36) by sperm chromosome studies. AJHG 53:214-219, 1993. [PMC free article: PMC1682220] [PubMed: 8317486]46,XY,inv(7)(p13q36).There were other inversion carrier members in the family.Aberration: Inversion pericentricIndex Terms: Sperm ... chromosome analysisNegative band - FitzSimmons J, Wapner R J, Jackson L G: Repeated pregnancy loss. AJMG 16:7-13, 1983. [PubMed: 6638072]46,XX,inv(7)(p13q22).Aberration: Inversion pericentricNegative band
- Fryns J P, Kleczkowska A, Kubien E, Petit P, Van den Berghe H: Cytogenetic survey in couples with recurrent fetal wastage. Hum. Genet. 65:336-354, 1984. [PubMed: 6693122]46,XY,t(7;18)(p13;q23).Aberration: Reciprocal translocationIndex Terms: Fetal wastage (Habitual recurrent, spontaneous abortion)Negative band
- Knisely A S, Richardson A, Abuelo D N, Casey S, Singer D B: Lethal osteogenesis imperfecta associated with 46,XY,inv(7)(p13q22) karyotype. J. Med. Genet. 25:352-355, 1988. [PMC free article: PMC1050466] [PubMed: 3385745]46,XY,der inv(7)(p13q22)mat.Aberration: Inversion pericentricMIM#: 259400Index Terms: Osteogenesis imperfectaNegative band
- Kroisel P M, Petek E, Wagner K.: Phenotype of five patients with Greig syndrome and microdeletion of 7p13. AJMG 102:243-249, 2001. [PubMed: 11484201]
Schwarzbraun T, Windpassinger C, Ofner L, Vincent J B, Cheung J, Scherer S W, Wagner K, Kroisel P M, Petek E.: Genomic analysis of five chromosome 7p deletion patients with Greig cephalopolysyndactyly syndrome (GCPS). Europ. J. Med. Genet. 49: 338-345, 2006. [PubMed: 16829355]Patient A=46,XX,ish del(7)(12FG1-,22BE7-,32JD10-).,Patients (twins) BA & BB=46,XY,del(7)(p12.3p13)de novo.ish del(p13)(12FG1-,22BE7-,32JD10-).,Patient C=46,XY,del(7)(p12.3p14.2).,Patient D=46,XY,del(7)(p11.2p13).Aberration: Interstitial deletionMIM#: 175700Chromosomal Aneuploidy: 7p-Index Terms: Greig syndrome (GCPS) - Marks K, Hill L, Chitham R G, Whitehouse W L: Interstitial deletion of chromosome 7p detected antenatally. J. Med. Genet. 22:316-318, 1985. [PMC free article: PMC1049459] [PubMed: 4045964]The mother was 30 years old, para 1, and had high serum AFP values.46,XY,del(7)(pter -> p15.1::p13 -> qter).Aberration: Interstitial deletionNegative band
- Megarbane A, Le Lorc''h M, Elghezal H, Joly G, Gosset P, Souraty N, Samaras L, Prieur M, Vekemans M, Turleau C, Romana S P.: Pure partial 7p trisomy including the TWIST, HOXA, and GLI3 genes. J. Med. Genet. 38:178-182, 2001. [PMC free article: PMC1734838] [PubMed: 11303510]46,XY,inv ins(8;7)(p23.1;p21.2p13).The 24 year old, with Lebanese ancestry, was evaluated because of dysmorphic features and MR.Aberration: Inverted insertions between chromosomesMIM#: 165240,601622Chromosomal Aneuploidy: 7p+
- Moedjono S J, Funderburk S J, Sparkes R S: Chromosome 7 Short-Arm Interstitial Deletion (p14). Hum. Genet. 44:51-57, 1978. [PubMed: 711238]46,XX,del(7)(p13p15).&A 13-year-old girl presented with microcephaly, short and broad neck, low posterior hairline, congenital heart disease, limitation of joint movement, and mild mental retardation.Aberration: Interstitial deletionIndex Terms: Congenital heart defects (cardiovascular anomalies),Hairline ... posterior, low,Joints ... restricted,Microcephaly,Neck ... anomaliesNegative band
- Moore C M, Pfeiffer R A, Craig-Holmes A P, Scott C I, Meisel-Stosiek M: Partial trisomy 7p in two families resulting from different balanced translocations. Clin. Genet. 21:112-121, 1982. [PubMed: 7083611]46,XY,t(7;8)(p13;p23).&"46,XX and XY,der(7)der(8)t(7;8)(p13;p23)mat and pat."Case 1.46,XY,-8,+der(8)t(7;8)(8qter -> 8p23::7p13 -> 7pter)pat.Aberration: Reciprocal translocationNegative band
- Muller U, Staudt F, Hameister H: A patient with interstitial deletion 7 (p13 to p21). Ann. Genet. 24:239-241, 1981. [PubMed: 6800299]Patient was 2 years old. Parental karyotypes were normal. Clinical features were motor retardation, abnormal cranial shape, cerebral paresis, grand mal epilepsy, dysplasy of both kidneys, hypertrophy of the clitoris, and interatrial septal defect of the heart. Craniosynostosis was not observed.46,XX,del(7)(pter -> p21::p13 -> qter).Aberration: Interstitial deletionIndex Terms: Clitoris ... anomalies,Congenital heart defects (cardiovascular anomalies),Epilepsy,Kidney ... malformations,Motor retardationNegative band
- Papadopoulou E, Sifakis S, Sarri C, Gyftodimou J, Liehr T, Mrasek K, Kalmanti M, Petersen M B.: A report of pure 7p duplication syndrome and review of the literature. AJMG Part A: 140A: 2802-2806, 2006. [PubMed: 17103460]46,XX,dup(7).ish dup(7)(pter->p13::p22.1->qter)(wcp7+)de novoThe 9 month old was evaluated because of dysmorphic features and developmental delay. The authors review 16 cases of 7p duplication without other chromosome involvement and state that ''it is not yet possible to define a specific pattern of symptoms in relation to the extent of duplicated part''.Aberration: Direct duplicationChromosomal Aneuploidy: 7p+
- Pelz L, Kruger G, Gotz J, Erfurth F, Dunker H: Extremely rare chromsomal aberrations: cytogenetics and clinical evaluation. 7th Int. Congress Hum. Genet. Abstracts. Part 1:102, 1986.46,XX and XY,t(6;7)(q27;p13).Greig syndrome like condition was also found in this family along with the translocation.Aberration: Simple translocationMIM#: 175700Index Terms: Greig syndromeNegative band
- Reddy K S, Sulcova V.: The mobile nature of acrocentric elements illustrated by three unusual chromosome variants. Hum. Genet. 102:653-662, 1998. [PubMed: 9703427]Case B:46,XY,ins(7;?)(p13;?).ish ins(7;?)(p13;beta-s),(wcp1-,7-,13-,14-,15-,21-,22-,D1Z3-,D1Z7-,, all-alpha-s-, acrocentric beta-s+)mat.Aberration: IX,MA
- Wallace C, Bernstein R, Pinto M R: "Non-random in vitro 7;14 translocations detected in a routine cytogenetic series. 12 examples and their possible significance." Hum. Genet. 66:157-161, 1984. [PubMed: 6714974]t(7;14)(p13;q112).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,XY,t(7;11)(p13;q25).46,XY,t(7;17)(p13;q25).Aberration: Reciprocal translocationNegative band
- 07p130 - Chromosomal Variation in Man07p130 - Chromosomal Variation in Man
- Profile neighbors for GEO Profiles (Select 87923766) (200)GEO Profiles
Your browsing activity is empty.
Activity recording is turned off.
See more...