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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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  • Same entry as in 01p100 (Leegte et al, 1998).

  • Same entry as in 01q213 (McPherson et al, 1997).

  • Same entry as in 04q330 (Moog et al, 2003).

  • Same entry as in 07q220 (Sheridan et al, 1997).

  • Same entry as in 05p130 (Kraus et al, 2003).

  • Same entry as in 06q162 (Patsalis et al, 2004).

  • Same entry as in 07q1123 (del et al, 1998).

  • Same entry as in 07q320 (Kirchhoff et al, 2001).

  • Same entry as in 07q320 (Loffler et al, 2000).

  • Bannier E, Gedschold J, Gotze A: "Eine familiare balancierte translokation t(7;8) mit phanotypischen veranderungen." Z. Klin. Med. 43:1231-1234, 1988.
    Patient S., Th. (III-3).
    Three generation family with carriers and miscarriages is reported. Phenotypic abnormalities are thought to be independent of the translocation.
    Aberration: Reciprocal translocation
    Negative band
  • Berry R, Wilson H, Robinson J, Sandlin C, Tyson W, Campbell J, Porreco R, Manchester D: "Apparent Smith-Lemli-Opitz syndrome and Miller-Dieker syndrome in a family with segregating translocation t(7;17)(q34;p13.1)." AJMG 34:358-365, 1989. [PubMed: 2596525]
    46,XX and XY,t(7;17)(q34;p13.1).
    Patient 1.
    Patient had clinical characteristics of Miller-Dieker syndrome.
    Patients 2 to 5.
    Characteristics of SLO syndrome were present.
    Aberration: Reciprocal translocation
    Chromosomal Aneuploidy: 7q- and +,17p- and +
    Negative band
  • Bisgaard A-M, Rackauskaite G, Thelle T, Kirchhoff M, Bryndorf T.: Twins with mental retardation and an interstitial deletion 7q34q36.2 leading to the diagnosis of long QT syndrome. AJMG DOI=10.1002/ajmg.a.31130; 140A:644-648, 2006. [PubMed: 16470702]
    Aberration: Interstitial deletion
    Chromosomal Aneuploidy: 7q-
    Index Terms: Long QT syndrome
  • Borgaonkar D S: Unpublished data, 1992.
    Case No. 10756.
    The infant has MCA/MR including septic optic dysplasia.
    Aberration: Reciprocal translocation
    Index Terms: Opic dysplasia ... septic
    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]
    Aberration: Reciprocal translocation
    Negative band
  • den Hollander N S, Cohen-Overbeek T E, Heydanus R, Stewart P A, Brandenburg H, Los F L, Jahoda M G J, Wladimiroff J W: Cordocentesis for rapid karyotyping in fetuses with congenital anomalies or severe IUGR. Europ. J. Obstet. Gynecol. 53:183-187, 1994. [PubMed: 8200465]
    Aberration: Simple translocation
    Index Terms: Cordocentesis
    Negative band
  • Denison S R, Simper R K, Greenbaum I F.: How common are common fragile sites in humans: interindividual variation in the distribution of aphidicolin-induced fragile sites. Cytogenet. Genome Res.101:8-16 2003, [PubMed: 14571130]
    Aberration: Fragile sites
  • Fagan K, Kennedy C, Roddick L, Colley A.: An interstitial deletion of chromosome 7 (q35). J. Med. Genet. 31:738-739, 1994. [PMC free article: PMC1050089] [PubMed: 7529320]
    46,XX,del(7)(pter->q34::q36->qter)de novo.
    Aberration: Interstitial deletion
    Chromosomal Aneuploidy: 7q-
    Negative band
  • Forabosco A, Baroncini A, Dalpra L, Chessa L, Giannotti A, Maccagnani F, Dallapiccola B: The phenotype of partial dup(7q) reconsidered: a report of five new cases. Clin. Genet. 34:48-59, 1988. [PubMed: 3409538]
    Case 4 (Rome).
    It is suggested that the majority of symptoms found in 7q trisomic patients are not specific, are little characteristic and are unable to evoke this specific chromosomal defect. Therefore, the possibility of recognizing patients, with duplications of 7q, on clinical grounds alone, is rather unrealistic.
    Aberration: Simple translocation
    Chromosomal Aneuploidy: 7q+,18p-
    Negative band
  • Same entry as in 03q270 (Fryns et al, 1988).

  • Fryns J P, Petit P, Moerman F, Cassiman J J, Van den Berghe H: 8p trisomy in a malformed fetus. Ann. Genet. 25:162-163, 1982. [PubMed: 6982667]
    46,XY,t(7;8)(q34;p12).,46,XX and XY, der(7)der(8)t(7;8)(q34;p12)pat.,46,XX,der(7)(7;8)(7pter -> 7q34::8p12 -> 8pter)pat.
    Aberration: Reciprocal translocation
    Negative band
  • Hoo J J, Robertson A: 18ph+ is a normal chromosomal variant. Clin. Genet. 32:79-80, 1987. [PubMed: 3621658]
    A dark C-band segment is reported.
    Aberration: MA,ST
    Negative band
  • Same entry as in 04p160 (Jackson et al, 1977).

  • Jalal, S M, Law M E, Lindor N M, Thompson K J, Sekhon G S.: Application of multicolor fluorescent in situ hybridization for enhanced characterization of chromosomal abnormalities in congenital disorders. Mayo Clin. Proc. 76:16-21, 2001. [PubMed: 11155407]
    Case 4:
    The infant died at 8 months of age. She was evaluated because of poor muscle tone, poor feeding, and dysmorphic features.
    Aberration: Reciprocal translocation
    Chromosomal Aneuploidy: 7q-;12p+
    No 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]
    Aberration: Reciprocal translocation
    Index Terms: Habitual abortions
    Negative band
  • Same entry as in 02q210 (Keith et al, 1988).

  • Same entry as in 07p221 (Lurie I W et al, 1990).

  • Madsen H N, Lundsteen C, Steinrud J: A case of partial deletion of the long arm of chromosome 7(q34 to 7qter). Danish Med. Bull. 30:14-16, 1983. [PubMed: 6831934]
    Parental karytypes were normal. Patient was 3 years old with severe mental retardation and multiple congenital anomalies.
    Aberration: Terminal deletion
    Negative band
  • Same entry as in 02q230 (McManus and de Arce, 1986).

  • Midro A T, Wiland E, Panasiuk B, Lesniewicz R, Kurpisz M.: Risk evaluation of carriers with chromosome reciprocal translocation t(7;13)(q34;q13) and concomitant meiotic segregation analyzed by FISH on ejaculated spermatozoa. AJMG DOI=10.1002/ajmg.a.31083; 140A:245-256, 2006. [PubMed: 16411217]
    Data on a large pedigree with 36 pregnancies was collected.
    46,XX and XY,t(7;13)(q34;q13).,IV-9=46,XX,der(7)t(7;13)(q34;q13)mat.
    Aberration: Reciprocal translocation
    Chromosomal Aneuploidy: 7q-;13q+
  • Morava E, Bartsch O, Czako M, Frensel A, Kalscheuer V, Karteszi J, Kosztolanyi G.: Small inherited terminal duplication of 7q with hydrocephalus, cleft palate, joint contractures, and severe hypotonia. Clin. Dysmorphol. 12:123-127, 2003. [PubMed: 12868476]
    Patient=46,XX,der(13)t(7;13)(q34;q34).ish der(13)t(7;13)(D13S1152/D13S261+,D7S550+)mat.,Mother=46,XX,t(7;13)(q34;q34).ish t(7;13)(wcp7+,STS2000H-,wcp13+mv,D13S327+mv;wcp13+,D13S327-,wcp7+mv,STS2000H+mv).
    The 14 month old patient has trisomy 7q35->qter and partial monosomy 13q34.
    Aberration: Duplication
    Chromosomal Aneuploidy: 7q+;13q-
  • Same entry as in 03q210 (Naritomi K et al, 1993).

  • Same entry as in 07q320 (Nielsen et al, 1979).

  • Same entry as in 05p130 (Palmer et al, 1987).

  • 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]
    Aberration: Reciprocal translocation
    Negative band
  • Same entry as in 05q330 (Rao et al, 1991).

  • Romain D R, Cairney H, Stewart D, Columbano-Green L M, Garry M, Parslow M I, Parfitt R, Smythe R H, Chapman C J: Three cases of partial trisomy 7q owing to rare structural rearrangements of chromosome 7. J. Med. Genet. 27:109-113, 1990. [PMC free article: PMC1016931] [PubMed: 2319577]
    Case 2
    46,XY,rec(17),dup(7)(q34->qter),dir ins(7;17)(q34; q23.1q25.3)mat.,46,XX,dir ins(7;17)(q34;q23.1q25.3)mat.
    Characteristics associated with partial trisomy 7q include strabismus, low set ears, depressed nasal bridge, small nose, hypotonia, and mental retardation.
    Case 3.
    46,XX,rec(17),dup(7)(q34->qter),dir ins(7;17)(q34; q23.1q25.3)mat.
    Aberration: IX,DU
    Chromosomal Aneuploidy: 7q+
    Negative band
  • Same entry as in 03p130 (Ruiz et al, 1996).

  • Same entry as in 01q320 (Schinzel et al, 1984).

  • Smart R D, Ross J, Amann G, Nelson M M: "Cyclopia as a result of an unbalanced familial translocation, rcp(7;18)(q34;q21)." AJMG 25:603, 1986,1986. [PubMed: 3087168]
    Mother was a carrier for the translocation and pregnancy was terminated.
    46,XX,t(7;18)(q34;q21).&"46,XX,-7,+der(7)t(7;18)(7pter -> 7q34::18q21 -> 18qter)mat."
    Aberration: Reciprocal translocation
    MIM#: 236100
    Index Terms: Cyclop(ia)(s)
    Negative band
  • Same entry as in 07q220 (Stratton R F et al, 1993).

  • Taysi K, Burde R M, Rohrbaugh J R: Terminal long arm deletion of chromosome 7 and retino-choroidal coloboma. Ann. Genet. 25:159-161, 1982. [PubMed: 6982666]
    Patient, J. T., was 7 years old.
    46,XY, del(7)(pter -> q34:).
    Aberration: Terminal deletion
    Index Terms: Coloboma
    Negative band
  • Tengstrom C, Autio S: Chromosomal aberrations in 85 mentally retarded patients examined by high resolution banding. Clin. Genet. 31:53-60, 1987. [PubMed: 3568434]
    Patient E.P. was 41 years old with short stature, bone anomalies, spasticity, dysmorphic face.
    Aberration: Terminal deletion
    Chromosomal Aneuploidy: 7q-
    Index Terms: Bone anomalies,Facial dysmorphism,Spastic tone,Stature ... short (low)
    Negative band
  • Tiller G E, Watson M S, Duncan L M, Dowton S B: Congenital heart defect in a patient with deletion of chromosome 7q. AJMG 29:283-287, 1988. [PubMed: 3354600]
    Patient J. P. was premature with low birth weight, hypertelorism, bilateral cleft lip and palate, cryptorchidism, and a complex congenital heart defect. He died after 4 days.
    46,XY,del(7)(pter -> q34:)de novo.
    Aberration: Terminal deletion
    Chromosomal Aneuploidy: 7q-
    Index Terms: Congenital heart defects (cardiovascular anomalies),Cleft lip/palate,Cryptorchidism, (see also Testes, undescended),Hypertelorism,Still born (premature)
    Negative band
  • Tommerup N, van der Hagen C B, Heiberg A: "Tentative assignment of a locus for Rubinstein-Taybi syndrome to 16p13.3 by a de novo reciprocal translocation, t(7;16)(q34;p13.3)." AJMG 44:237-241, 1992. [PubMed: 1456298]
    Patient J.K.M.
    46,XY,t(7;16)(q34;p13.3)de novo.
    Patient was 10 years old. 6 other patients with RTS had normal chromosomes. Patient also had juvenile rheumatoid arthritis.
    Aberration: Reciprocal translocation
    Index Terms: Rubinstein-Taybi syndrome,Juvenile rhematoid arthritis
    Negative band
  • Same entry as in 04q330 (Tsenghi et al, 1981).

  • Warburg M, Bugge M, Brondum-Nielsen K.: Cytogenetic findings indicate heterogeneity in patients with blepharophimosis, epicanthus inversus, and developmental delay. J. Med. Genet. 32:19-24, 1995. [PMC free article: PMC1050173] [PubMed: 7897621]
    Case 3 (120573):
    The patient was 20 years old.
    Aberration: Terminal deletion
    MIM#: 110100
    Chromosomal Aneuploidy: 7q-
    Index Terms: BPES, Blepharophimosis, epicanthus inversus
    Negative band
  • Same entry as in 04q210 (Warburton D, 1991).

  • Same entry as in 07q220 (Watt, 1986).

Copyright © 2011-2013, Digamber Borgaonkar.
Bookshelf ID: NBK105683
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