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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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  • Ahlbom B E, Wahlstrom J, Saakman R, Wadelius C, Anneren G.: Severe psychomotor retardation in a boy with a supernumerary derivative chromosome resulting in partial trisomy 21 and partial trisomy 7p. Ann. Genet. 46:29-35, 2003. [PubMed: 12818527]
    The 12 year old did not have DS phenotype.
    The breakpoint was distal to D21S145 but proximal to D21S226, hence did not include the DS critical region in the der(21).
    Aberration: Reciprocal translocation
    Chromosomal Aneuploidy: 7p+;21q+
  • Baena N, De Vigan C, Cariati E, Clementi M, Stoll C, Caballin M R, Guitart M, The EUROSCAN Working Group.: Prenatal detection of rare chromosomal autosomal abnormalities in Europe. AJMG DOI=10.1002/ajmg.a.10104; 118A:319-327, 2003. [PubMed: 12687662]
    Detected by ultrasound examination at 22 weeks, maternal age of 40 years, with microcephaly, agenesis corpus callosum, low birth weight and MCA.
    Aberration: Ring chromosome
    Chromosomal Aneuploidy: 7p-;7q-
  • 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;8)(p21;q23); t(7;11)(p21;q21).
    Aberration: Reciprocal translocation
    Positive band
  • Brandt C A, Ludecke H J, Hindkjaer J, Stromkjaer H, Pinkel D, Herlin T, Bolund L, Friedrich U.: A de novo complex t(7;13;8) translocation with a deletion in the TRPS gene region. Hum. Genet. 100:334-338, 1997. [PubMed: 9272151]
    46,XX,ish t(7;13;8)(p21;q21;q24.1),del(8)(q24.1q24.1),(D8S42-,D8S50-,D8S547-,D8S98-,D8S1200-).
    The patient was ascertained in a survey of consecutive newborns with a t(8;13)(q24;q21) interpretation. At 8 years of age, with TRPS I and re-examination with different techniques the karyotypic abnormality was described.
    Aberration: CT,ID
    MIM#: 190350
    Chromosomal Aneuploidy: 8q-
    Index Terms: TRPS type I
  • Breen C J, Barton L, Carey A, Dunlop A, Gkancy M, Hall K, Hegarty A M, Khokhar M T, Power M, Ryan K, Green A J, Stallings R L.: Applications of comparative genomic hybridisation in constitutional chromosome studies. J. Med. Genet. 36:511-517, 1999. [PMC free article: PMC1734415] [PubMed: 10424810]
    Case 2:
    Patient studied because of developmental delay and dysmorphic features.
    Aberration: Simple translocation
    Chromosomal Aneuploidy: 7p+
    Index Terms: CGH
  • De Heer I M, Hoogeboom A J M, Eussen H J, Vaandrager J M, De Klein A.: Deletion of the TWIST gene in a large five-generation family. Clin. Genet. 65:396-399, 2004. [PubMed: 15099347]
    46,XX or XY.ish de(7)(p21p21)(cosIIIA9-).
    A deletion of the TWIST gene was detected in 13 family members.
    Aberration: Interstitial deletion
    MIM#: 101400
    Chromosomal Aneuploidy: 7p-
    Index Terms: TWIST,Saethre-Chotzen syndrome
  • 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 B.
    Aberration: Simple translocation
    Chromosomal Aneuploidy: 7p+
    Positive band
  • Husslein P, Huber J, Wagenbichler P, Schnedl W: Chromosome abnormalities in 150 couples with multiple spontaneous abortions. Fert. Ster. 37:379-383, 1982. [PubMed: 7199485]
    Aberration: Simple translocation
    Index Terms: Fetal wastage (Habitual recurrent, spontaneous abortion)
    Positive band
  • Kleczkowska A, Fryns J P, Van den Berghe H: Pericentric inversions in man: personal experience and review of the literature. Hum. Genet. 75:333-338, 1987. [PubMed: 3570287]
    Aberration: Inversion pericentric
    Positive band
  • Larson L M, Wasdahl W A, Jalal S M: "Partial trisomy 7p associated with familial 7p;22q translocation." J. Med. Genet. 14:258-261, 1977. [PMC free article: PMC1013579] [PubMed: 926137]
    46,XY,t(7;22)(p21;q13).&"46, XY,t(7;22)(7qter -> 7p21::22q13 -> 22qter;22pter -> 22q13::7p21 -> 7pter)."
    Aberration: Reciprocal translocation
    Positive 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. 741.
    Aberration: Reciprocal translocation
    Positive 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]
    Aberration: Reciprocal translocation
    Index Terms: High resolution G-banding
    Positive band
  • McPherson E, Hall J G, Hickman R, Gong B T, Norwood T H, Hoehn H: Chromosome 7 short arm deletion and craniosynostosis. A 7p- syndrome. Hum. Genet. 35:117-123, 1976. [PubMed: 1002161]
    46,XY,del(7)(p15p22).&46,XY,del(7)(pter -> p22::p15 -> qter).&This interstitial deletion is entered for the band that appears to be missing in the karyotype rather than at the break points. Four of the five patients with deletion in the 7p had craniosynostosis and the fifth had microcephaly.
    Aberration: Interstitial deletion
    Index Terms: Craniosynostosis,Microcephaly
    Positive band
  • Nakagome Y, Teramura F, Kataoka K, Hosono F: "Mental retardation, malformation syndrome and partial 7p monosomy 45,XX,t dic(7;15)(p21;p11)." Clin. Genet. 9:621-624, 1976. [PubMed: 1277574]
    Case No. NIG (1925) in this report.
    45,XX,t dic(7;15)(7qter -> 7p21::15p11 -> 15qter).&It is hypothesized that one of the centromeres is not functioning. Both parents and two brothers have normal karyotypes. Patient died at 6 months of age. She was mentally retarded and had multiple anomalies. She was monosomic for 7p22 and a part of 7p21.
    Aberration: Dicentric chromosome
    Positive band
  • Phillips O P, Tharapel A T, Shulman A P, Simpson J L, Elias S: Segregation analysis and genetic counseling when both parents carry balanced chromosomal translocations. Fert. Ster. 56:646-652, 1991. [PubMed: 1915938]
    The infant was phenotypically normal.
    Aberration: Reciprocal translocation
    Positive band
  • Scarbrough P R, Carroll A J, Younger J B, Finley S C: "Paternal Robertsonian translocation t(13q;14q) and maternal reciprocal translocation t(7p;13q) in a couple with repeated fetal loss." J. Med. Genet. 21:463-464, 1984. [PMC free article: PMC1049349] [PubMed: 6512837]
    Aberration: Reciprocal translocation
    Positive band
  • Schomig-Spingler M, Schmid M, Brosi W, Grimm T: Chromosome 7 short arm deletion, 7p21 to 7pter. Hum. Genet. 74:323-325, 1986. [PubMed: 3781561]
    Patient was 5 months old with trigonocephaly with craniosynostosis, median bony forehead bulge, high palate, atrial septal defect, anal atresia and perineal fistula, thumb insertion far to ulnar-proximal, and a slightly retarded psychomotor development.
    46,XX,del(7)(p21 -> pter)de novo.
    Aberration: Terminal deletion
    Index Terms: Anus ... anal atresia,Atresia ... anal,Craniosynostosis,Forehead ... bulging,Palate ... high arched,Perineum anomaly,Trigonocephaly
    Positive band
  • Same entry as in 01p210,07p120 (Warburton D, 1991).

  • 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]
    Aberration: Reciprocal translocation
    Positive band
Copyright © 2011-2013, Digamber Borgaonkar.
Bookshelf ID: NBK105492


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