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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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07p130

7p13
  • 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 deletion
    Chromosomal 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 sites
    Negative 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 translocation
    Index Terms: Spermatocytes
    No 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 deletion
    Index Terms: Blepharophimosis,Clitoris ... anomalies,Ears ... accessory,Epicanthal folds,Foot ... anomalies,Hand ... anomalies,Hypertelorism
    Negative 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 translocation
    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]
    t(7;13)(p13;q34); t(7;21)(p13;p11); t(7;22)(p13;q11); inv(7)(p13q21).
    Aberration: PI,RT
    Negative 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. 8
    46,XY,dir ins(13;1)(q34;p31.2p32.3),t(7;12)(p13;p13).
    Child with ambiguous genitalia, de novo translocations.
    Aberration: Reciprocal translocation
    Negative 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#: 175700
    Index Terms: Cephalopolysyndactyly
    Negative 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 duplication
    Negative 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 deletion
    Chromosomal 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 translocation
    Index Terms: Ataxia-telangiectasia
    Negative 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 translocation
    Negative 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 pericentric
    Index Terms: Sperm ... chromosome analysis
    Negative 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 pericentric
    Negative 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 translocation
    Index 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 pericentric
    MIM#: 259400
    Index Terms: Osteogenesis imperfecta
    Negative 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 deletion
    MIM#: 175700
    Chromosomal 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 deletion
    Negative 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 chromosomes
    Chromosomal 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 deletion
    Index Terms: Congenital heart defects (cardiovascular anomalies),Hairline ... posterior, low,Joints ... restricted,Microcephaly,Neck ... anomalies
    Negative 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 translocation
    Negative 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 deletion
    Index Terms: Clitoris ... anomalies,Congenital heart defects (cardiovascular anomalies),Epilepsy,Kidney ... malformations,Motor retardation
    Negative 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 novo
    The 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 duplication
    Chromosomal 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 translocation
    MIM#: 175700
    Index Terms: Greig syndrome
    Negative 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 translocation
    Negative band
Copyright © 2011-2013, Digamber Borgaonkar.
Bookshelf ID: NBK105544
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