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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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07p150

7p15
  • 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;8)(p15;q23).
    Aberration: Reciprocal translocation
  • 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)(p15;q14); inv(7)(p15q22).
    Aberration: PI,RT
    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]
    Crawfurd M d''A, Kessel I, Liberman M, McKeown J A, Mandalia P Y, Ridler M A C: Partial monosomy 7 with interstitial deletions in two infants with differing congenital abnormalities. J. Med. Genet. 16:453-460, 1979. [PMC free article: PMC1012593] [PubMed: 537019]
    Case b:
    46,XY,del(7)(pter -> p21.2::p15 -> qter).
    Parents had normal karyotypes.
    Aberration: Interstitial deletion
    Chromosomal Aneuploidy: 7p-
    Negative band
  • Couzin D A, Watt J L, Stephen G S: Structural rearrangements in the parents of children with primary trisomy 21. J. Med. Genet. 24:280-282, 1987. [PMC free article: PMC1050051] [PubMed: 2953898]
    46,XY,t(7;13)(p15;q32).&"46,XX,-13,+der(13)t(7;13)(13pter -> 13q32::7p15 -> 7pter)pat."
    Aberration: Simple translocation
    Index Terms: Down syndrome (Trisomy 21)
    Negative band
  • Delicado A, Escribano E, Lopez-Pajares I, Diaz de Bustamante A, Carrasco S: A malformed child with a recombinant chromosome 7, rec(7) dup p, derived from a maternal pericentric inversion inv(7)(p15q36). J. Med. Genet. 28:126-127, 1991. [PMC free article: PMC1016782] [PubMed: 2002483]
    46,XX,inv(7)(p15q36).&46,XX,rec(7)dup p, inv(7)(p15q36)mat.
    The child had MCA/MR.
    Aberration: PI,RE
    Negative band
  • Friedrich U, Lyngbye T, Oster J: A girl with karyotype 46,XX,del(7)(qter to p15:). Humangenetik 26:161-165, 1975. [PubMed: 1112608]
    46,XX,del(7)(p15).&46,XX,del(7)(qter -> p15:).
    Aberration: Terminal deletion
    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,XX,t(7;12)(p15;p13).
    Aberration: Reciprocal translocation
    Index Terms: Fetal wastage (Habitual recurrent, spontaneous abortion)
    Negative band
  • Gabarron J, Glover G, Jimenez A, Salas P, Perez-Bryan J, Parra M J: Chromosomal imbalance in the offspring of translocation carriers involving 7p. Further contribution with three cases to the partial trisomy 7p phenotype. Clin. Genet. 33:211-219, 1988. [PubMed: 3359679]
    Family A.
    46,XX,der(7)t(7;18)(p15;q23)pat.
    Family C.
    46,XX,t(7;18)(p15;p11)mat.
    Aberration: Simple translocation
    Chromosomal Aneuploidy: 7p+
    Negative band
  • Junge A, Domke N, Tolkendorf E: Cytogenetic investigation of peripheral lymphocyte cultures in couples with habitual abortions. Zent. Bl. Gynakol. 113:1046-1058, 1991. [PubMed: 1962519]
    46,XY,t(7;14)(p15;q12).
    Aberration: Reciprocal translocation
    Index Terms: Habitual abortions
    Negative band
  • Kirchhoff M, Rose H, Lundsteen C.: High resolution comparative genomic hybridisation in clinical cytogenetics. J. Med. Genet. 38:740-744, 2001. [PMC free article: PMC1734756] [PubMed: 11694545]
    Case 5=46,XX,del(7)(p15p15)
    Case from a group of dysmorphic and MR subjects with normal or apparently balanced karyotypes.
    Aberration: Interstitial deletion
    Chromosomal Aneuploidy: 7p-
  • Kozma C, Haddad B R, Meck J M.: Trisomy 7p resulting from 7p15;9p24 translocation: report of a new case and review of associated medical complications. AJMG 91:286-290, 2000. [PubMed: 10766985]
    46,XX,der(9)t(7;9)(p15;p24).ish der(9)t(7;9)(wcp7+,wcp9+)
    The 4 year old patient had prominent forehead, hypertelorism, and generalized developmental deficits.
    Aberration: Simple translocation
    Chromosomal Aneuploidy: 7p+;9p-
  • Lindenbaum R H, Hulten M A, McDermott A, Seabright M: The prevalence of translocations in parents of children with regular trisomy 21: a possible interchromosomal effect? J. Med. Genet. 22:24-28, 1985. [PMC free article: PMC1049372] [PubMed: 3156995]
    Case 10.
    46,XX,t(7;11)(p15;p11) in mother and sister.
    Aberration: Reciprocal translocation
    Index Terms: Down syndrome (Trisomy 21)
    Negative band
  • Mann J, Wcislo K, 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. 749.
    46,XX,t(7;14)(p15;q23).
    Aberration: Reciprocal translocation
    Negative band
  • Miller M, Kaufman G, Reed G, Bilenker R, Schinzel A A: Familial balanced insertional translocation of chromosome 7 leading to offspring with deletion and duplication of the inserted segment, 7p15 to 7p21. AJMG 4:323-332, 1979. [PubMed: 539602]
    Individual I-2 in the pedigree.
    46,XX,ins(7)(p1500p2104q22).
    Individual II-7, WM121646, in the pedigree.
    46,XY,rec(7) dup(p1500p2104) ins(7)(p1500p2104q22)mat.
    Individual III-3, RW040676, in the pedigree.
    46,XX,rec(7) del(p1500p2104) ins(7)(p1500p2104q22)mat.&"46,XX,ins(7)(pter -> p2104::p14 -> qter;pter -> q22::p15 -> p2104::q22 -> qter)."
    Individuals II-2 and II-5 in the pedigree.
    46,XX,der ins(7)(p1500p2104q22)mat.
    Aberration: Direct insertion between two chromosomes
    Negative band
  • Moore C M, Pfeiffer R A, Craig-Holmes A P, Scott C I, Jr, Meisel-Stosiek M: Partial trisomy 7p in two families resulting from different balanced translocations. Clin. Genet. 21:112-121, 1982. [PubMed: 7083611]
    Case 2.
    46,XX,-21,+der(21)t(7;21)(p15;p12)mat.
    Case 2; patient was 8 months old.
    46,XY,t(7;21)(p15;p12).&"46, XX and XY,der(7)der(21)t(7;21)(p15;p12)mat and pat."
    Aberration: Simple translocation
    Negative band
  • Neri G, Serra A, Campana M, Tedeschi B: Reproductive risks for translocation carriers: cytogenetic study and analysis of pregnancy outcome in 58 families. AJMG 16:535-561, 1983. [PubMed: 6660248]
    Sibship L.A. in this report.
    t(7;13)(p15;q34).
    Aberration: Reciprocal translocation
    Negative band
  • Ohdo S, Suzumori K, Madokoro H, Sonoda T, Hayakawa K: Partial trisomy for 7p due to maternal balanced translocation. Jpn. J. Hum. Genet. 28:297-300, 1983. [PubMed: 6678317]
    46,XX,rcp(7;11)(p15;q25).&"46,XX,-11,+der(11)t(7;11)(p15;q25)mat."
    Case 1.
    46,XY,-11,+der(11)t(7;11)(p15;q25)mat.
    Aberration: Reciprocal translocation
    Negative band
  • Pallotta R, Dalpra L, Fusilli P, Zuffardi O.: Further delineation of 7p trisomy. Case report and review of literature. Ann. Genet. 39: 152-158, 1996. [PubMed: 8839888]
    Patient C.S.:
    46,XY,-8,+der(8),t(7;8)(8qter->p22::7p15->7pter)de novo.
    The 7p trisomy may be characterized by high and large forehead flattened at the center due to the abnormally large and persistent gaping anterior fontanel and sagittal (metopic) sutures, consequent hypertelorism and broad nasal bridge, cutis laxa, often denounced by folded neck, joint and cardiovascular anomalies, psychomotor delay and a possible typical dermatoglyphic pattern.
    Aberration: Reciprocal translocation
    Chromosomal Aneuploidy: 7p+
    Negative band
  • Petit P, Fryns J P: "Two pericentric inversions inv(7)(p15;q32) and inv(9)(p11;q13) in a male with absence of vas deferens." Hum. Genet. 64:303, 1983. [PubMed: 6885077]
    Patient was 24 years old and apart from bilateral atresia of the vas deferens he was phenotypically normal.
    46,XY,inv(7)(p15q32)inv(9)(p11q13).
    Aberration: Inversion pericentric
    Negative band
  • 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(7)(p15q21).
    Aberration: Inversion pericentric
    Negative band
  • Reish O, Berry S A, Dewald G, King R A.: Duplication of 7p: further delineation of the phenotype and restriction of the critical region to the distal part of the short arm. AJMG 61:21-25, 1996. [PubMed: 8741912]
    46,XX,-20,+der(20)t(7;20)(p15;q13.3)de novo.
    Patient seen at the age of 6 months had dolichocephaly with occipital bossing and other MCA. The complete phenotype of dup(7)(p15->pter) includes MR, skull anomalies, large anterior fontanel, cardiovascular defects, joint dislocation and contraction, and gastrointestinal and genital defects.
    Aberration: Reciprocal translocation
    Chromosomal Aneuploidy: 7p+;20qq-
    Negative band
  • Rivera H, Bobadilla L, Rolon A, Kunz J, Crolla J A.: Intrachromosomal triplication of distal 7p. J. Med. Genet. 35:78-80, 1998. [PMC free article: PMC1051195] [PubMed: 9475103]
    The infant died at 2 years of age.
    46,XX,dup(7)(qter->p22::p21.3->p21.2::p15->p22::p22->pter)de novo
    The infant had wide anterior fontanelle, downward slanting palpebral fissures, large, simple ears, joint dislocation/contractures recurrent infections and severe pulmonray hypertension.
    Aberration: TRIP,IP
    Chromosomal Aneuploidy: 7p+
    No band
  • Stetten G, 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. 733.
    46,XX,t(7;12)(p15;q13)pat.
    Aberration: Reciprocal translocation
    Negative band
  • Toth A, Gaal M, Bosze P, Laszlo J: Chromosome abnormalities in 118 couples with recurrent spontaneous abortions. Gynecol. Obstet. Invest. 18:72-77, 1984. [PubMed: 6479698]
    46,XY,t(7;12)(p15;q24).
    Aberration: Simple translocation
    Negative band
  • Vekemans M J J, Cartier L, 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. 740.
    47,XX,t(7;13)(p15;q14)mat,+21.
    Aberration: Reciprocal translocation
    Negative band
  • Verma R S, Giridharan R, Conte R A, Luke S.: An apparent balanced translocation between chromosomes 7 and 13 [t(7;13)(p15;q32)] in a 47,XYY individual. Jpn. J. Hum. Genet. 39:451-452, 1994. [PubMed: 7873761]
    Patient JZ.
    47,XYY,t(7;13)(7qter->7p15::13q32->13qter;13pter->13q32::7p15->7pter).
    The boy was 7 years old and presented with behavioral problems.
    Aberration: Reciprocal translocation
    Negative band
Copyright © 2011-2013, Digamber Borgaonkar.
Bookshelf ID: NBK106519
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