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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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  • Aurias A, Prieur M, Dutrillaux B, Lejeune J: Systematic analysis of 95 reciprocal translocations of autosomes. Hum. Genet. 45:259-282, 1978. [PubMed: 738728]
    Patient I.P. No. 7246 in this report.
    Aberration: Reciprocal translocation
    Positive band
  • Baeteman M A, Philip N, Mattei M G, Mattei J F: Clinical, chromosomal and enzymatic studies in four cases of rearrangements of chromosome 7. Clin. Genet. 27:564-569, 1985. [PubMed: 3839444]
    Patient No. 2.
    46,XY,del(7)(pter -> q35:).
    Aberration: Terminal deletion
    Positive 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;9)(q35;p13); t(7;10)(q35;p14).
    Aberration: Reciprocal translocation
    Positive band
  • Boue J, Boue A, Girard S, Thepot F: Diagnostic prenatal des anomalies chromosomiques. Arch. Fr. Ped. 33:653-664, 1976. [PubMed: 999438]
    46,XX,t(7;9)(q35;p13).&There is another report of a similar inherited translocation. See report of Turleau et al, 1974.
    Aberration: Reciprocal translocation
    Positive band
  • Castel Y, Reviere D, Boucly J Y, Toudic L: "Partial trisomy 15q due to a maternal translocation t(7;15)(q35;q14)." Ann. Genet. 19:75-79, 1976.
    Individual II-2 in the pedigree.
    Patient was a 21-year-old girl with severe growth and mental retardation.
    Proband (III-4) M.J.C. (000053) in this report.
    Aberration: Reciprocal translocation
    Positive band
  • Chen C-P, Chern S-R, Chang T-Y, Tzen C-Y, Lee C-C, Chen W-L, Lee M-S, Wang W.: Prenatal diagnosis of de novo terminal deletion of chromosome 7q. Prenat. Diag. 23:375-379, 2003. [PubMed: 12749033]
    46,XX,del(7)(q35->qter)de novo
    Amniocentesis was performed, at 21 weeks, because of a positive result of maternal serum multiple-marker screening. MCA were noted and pregnancy was terminated.
    The deleted chromosome was maternally derived.
    Aberration: Terminal deletion
    Chromosomal Aneuploidy: 7q-
  • de Grouchy J, Turleau C, Josso F, Gazengel C, Nedelec J: Tenative localization of Hageman (Factor XII) locus on 7q, probably the 7q35 band. Humangenetik 24:197-200, 1974. [PubMed: 4140832]
    Turleau C, de Grouchy J, Chavin-Colin F, Roubin M, Langmaid H: Trisomy 9p: two further observations. Ann. Genet. 17:167-174, 1974. [PubMed: 4548817]
    46,XX,t(7;9)(q35;p13).&"46,XX,t(7;9)(7pter -> 7q35::9p13 -> 9pter;9qter -> 9p13::7q35 -> 7qter)."&"46,XX,-7,-9,+der(7)der(9)t(7;9)(q35;p13)mat."
    Case 2 (No. 6369) 171173 in this report.
    Aberration: Reciprocal translocation
    MIM#: 234000
    Positive 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 5 (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+,22q-
    Positive band
  • Francke U: Hageman (Factor XII) locus on 7q? Report of a second case with del(7)q35 and normal Factor XII level. Hum. Genet. 45:363-367, 1978. [PubMed: 738736]
    Subject No. AC190775 in this report.
    46,XX,del(7)(q35).&46,XX,del(7)(7pter -> 7q35:).&Clinically, the 3-year-old proband resembles some reported cases with distal del(7)q. Both parents had normal karyotypes.
    Aberration: Terminal deletion
    MIM#: 234000
    Positive band
  • Goumy C, Bonnet-Dupeyron M-N, Cherasse Y, Laurichesse H, Jaffray J-Y, Lacroute G, Geneix A, Lemery D, Vago P.: Chorionic villus sampling (CVS) and fluorescence in situ hybridization (FISH) for a rapid first-trimester prenatal diagnosis. Prenat. Diag. 24:249-256, 2004. [PubMed: 15065097]
    Mother of case No. 29=46,XX,t(7;21)(q35;q22).
    Aberration: Reciprocal translocation
  • Grosse K P, Schwanitz G, Singer H, Wieczorek V: Partial trisomy 10p. Humangenetik 29:141-144, 1975. [PubMed: 1176136]
    J.H. father of proband Th. H. (110769) in this report.
    46,XY,t(7;10)(q35;p14).&"46,XY,-7,+der(7)t(7;10)(q35;p14)pat."&The patient is trisomic for the distal part of chromosome 10 segment p14 -> pter and monosomic for a small terminal part of 7q.
    Aberration: Simple translocation
    Positive band
  • Gurrieri F, Trask B J, van der Engh G, Krauss C M, Schinzel A A, Pettenati M J, Schindler D, Dietz-Band J, Vergnaud G, Scherer S W, Tsui L C, Muenke M: Physical mapping of the holoprosencephaly critical region on chromosome 7q36. Nature Genetics 3:247-251, 1993. [PubMed: 8485580]
    Punnett H H, Kistenmacher M L, Miller R C, Greene A E: "A (7;18) translocation. 46,XY Repository identification No. GM-657." Cytogenet. Cell Genet. 24:126, 1979. [PubMed: 477406]
    Vance G H, Nickerson C, Sarnat L, Zhang A, Henegariu O, Morichon-Delvallez N, Butler M G, Palmer C G.: Molecular cytogenetic analysis of patients with holoprosencephaly and structural rearrangements of 7q. AJMG 76:51-57, 1998. [PubMed: 9508065]
    Varley H, Di S, Scherer S W, Royle N J.: Characterization of terminal deletions at 7q32 and 22q13.3 healed by de novo telomere addition. AJHG 67:610-622, 2000. [PMC free article: PMC1287521] [PubMed: 10924407]
    4-week-old male Caucasian with numerous congenital anomalies, including cleft palate, microcephaly, and delayed development. An older sister and both parents are phenotypically normal. However the mother has the same translocation. The mother''s (presumed) identical twin sister has a mentally retarded daughter with physical characteristics similar to those of the proband were found to have the same rearrangement. The twins also had a brother with congenital heart disease and cleft lip and palate who died at 13 days of age. The maternal grandmother has a normal karyotype. The maternal grandfather was not karyotyped.
    The patient was a newborn with holoprosencephaly (HPE).
    Patient FB336R
    The patient has mild holoprosencephaly, MR, and mild facial dysmorphia.
    The breakpoint at 7q32 has been healed by the addition of a novel telomere.
    Patient No. 238.
    Aberration: Reciprocal translocation
    MIM#: 142945
    Chromosomal Aneuploidy: 7q-
    Index Terms: Holoprosencephaly
    No band
  • Hoo J J, Chao M, Szego K, Rauer M, Echiverri S C, Harris C.: Four new cases of inverted terminal duplication: a modified hypothesis of mechanism of origin. AJMG 58:299-304, 1995. [PubMed: 8533837]
    A telomeric deletion followed by a U-type reunion of the chromatids is the proposed mechanism for these inverted terminal duplications.
    Case 1, B.S.:
    46,XX,inv dup(7)(pter->q36::q36->q35).
    Patient died at 1 year of age of pneumonia and had MCA.
    A FISH study showed only one telomeric signal with Oncor, #P5097-B.5 detecting repetitive AATGGG sequence.
    Aberration: Duplication
    Chromosomal Aneuploidy: 7q+
    Positive band
  • Kawashima H, Taniguchi N: Normal Hageman factor level in 7q deletion syndrome. Clin. Genet. 19:207-208, 1981. [PubMed: 7273466]
    Patient was 10 month old with a de novo deletion was considered to have the activity of the Hageman factor within the normal range. The authors do not consider this marker is a suitable one for gene localization studies because of its wide range of normal variation and do not think this gene locus is on 7q35.
    46,XY,del(7)(pter -> q35:).
    Aberration: Terminal deletion
    MIM#: 234000
    Positive band
  • Masuno M, Imaizumi K, Aida N, Tanaka Y, Sekido K I, Ohhama Y, Nishi T, Kuroki Y.: Currarino triad with a terminal deletion 7q35->qter. J. Med. Genet. 33:877-878, 1996. [PMC free article: PMC1050771] [PubMed: 8933345]
    46,XX,del(7)(pter->q35:)de novo
    The patient was 5 years old with the Currarino triad, characterised by congenital anorectal stenosis, a sacral defect, and a presacral mass.
    Aberration: Terminal deletion
    MIM#: 176450
    Chromosomal Aneuploidy: 7q-
    Index Terms: Currarino triad
    Positive band
  • Metzke-Heidemann S, Kuhling-von Kaisenberg H, Caliebe A, Janssen D, Jonat W, Grote W, von Kaisenberg C S.: Phenotypical variation in cousins with the identical partial trisomy 9 (pter-q22.2) and 7 (q35-qter) at 16 and 23 weeks. AJMG DOI=10.1002/ajmg.a.20563; 126A:197-203, 2003 and 2004. [PubMed: 15057986]
    II-1 and II-3=46,XX,t(7;9)(q35;q22.2).,III-2 and III-5=47,XX,+der(9)t(7;9)(q35;q22.2)mat.
    III-2 had Dandy-Walker malformation.
    Aberration: Reciprocal translocation
    Chromosomal Aneuploidy: 7q+;9q+
  • Pellestor F, Girardet A, Coignet L, Andreo B, Lefort G, Charlieu J P.: Cytogenetic analysis of meiotic segregation in sperm from two males heterozygous for reciprocal translocations using PRINS and humster techniques. Cytogenet. Cell Genet. 78:202-208, 1997. [PubMed: 9465888]
    Subject 1:
    Wife had three spontaneous abortions.
    Aberration: Reciprocal translocation
    Index Terms: PRINS,Sperm ... analysis,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,,
  • Sullivan B A, Leana-Cox J, Schwartz S: Clarification of subtle reciprocal rearrangements using fluorescence in situ hybridization. AJMG 47:223-230, 1993. [PubMed: 8213910]
    Patient 6:
    Patient was ascertained during prenatal diagnosis, and amniotic fluid and peripheral blood was used.
    Aberration: Reciprocal translocation
    Index Terms: FISH
    Positive band
  • Turleau C, de Grouchy J, Perignon F, Lenoir G: Monosomie 7qter. Ann. Genet. 22:242-244, 1979. [PubMed: 317790]
    Patient, 3 months old, 030379; parents had normal karyotypes.
    46,XX,del(7)(pter -> q35:).
    Aberration: Terminal deletion
    Positive band
  • Young R S, Weaver D D, Kukolich M K, Heerema N A, Palmer C G, Kawira E L, Bender H A: Terminal and interstitial deletions of the long arm of chromosome 7: a review with five new cases. AJMG 17:437-450, 1984. [PubMed: 6199974]
    Patient 2 was 14 months old.
    46,XX,del(7)(pter -> q35:).
    Aberration: Terminal deletion
    Positive band
Copyright © 2011-2013, Digamber Borgaonkar.
Bookshelf ID: NBK105997


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