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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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07q320

7q32
  • 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
  • Bogart M H, Cunniff C, Bradshaw C, Jones K L, Jones O W: Terminal deletions of the long arm of chromosome 7: five new cases. AJMG 36:53-55, 1990. [PubMed: 2333907]
    Patient 3.
    46,XY,t(7;8)(q32;p23.1).,46,XY,der(7),t(7;8)(7pter->7q32::8p23.1->8pter)pat.
    Patients 2, 4 and 5.
    46,XX or XY,del(7)(pter->q32:)de novo.
    Aberration: RT,TD
    Chromosomal Aneuploidy: 7q-
    Index Terms: Holoprosencephaly
    Negative band
  • Same entry as in 04q350,07q210 (Boue and Gallano, 1984).
  • 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)(q32;p24); t(7;13)(q32;q22); t(7;18)(q32;q22); t(7;19)(q32;p132); t(7;21)(q32;q22).
    Aberration: Reciprocal translocation
    Negative band
  • Buckton K E: The identification of whole chromosomes or parts of chromosomes by the new banding techniques. Nobel Symposium 23:196-200, 1972.
    46,XX,t(7;19)(q32;q13).,46,XX,der(19)t(7;19)(q32;q13)mat.
    Aberration: Simple translocation
    Negative band
  • Chen C-P, Liu F-F, Jan S-W, Lin C-L, Lan C-C.: Prenatal diagnosis of terminal deletion 7q and partial trisomy 3p in fetuses with holoprosencephaly. Clin. Genet. 50:321-326, 1996. [PubMed: 9007318]
    Case 1:
    46,XY,del(7)(pter->q32:)
    At 26 weeks, ultrasonography revealed alobar holoprosencephaly, proboscis above the eye and doubling of the ocular structure.
    Aberration: Terminal deletion
    Chromosomal Aneuploidy: 7q-
    Index Terms: Cyclopia
    No band
  • Chuang L, Kuo P-L, Yang H-B, Chien C-H, Chen P-Y, Chang C-H, Chang F-M.: Prenatal diagnosis of holoprosencephaly in two fetuses with der(7)t(1;7)(q32;q32)pat inherited from the father with double translocations. Prenat. Diag. 23:134-137, 2003. [PubMed: 12575020]
    Father=46,XY,t(1;7)(q32;q32),t(14;15)(q32.1;q26.3).,der(7)t(1;7)(q32;q32)pat.
    The two fetuses had identical karyoypes but variable facial dysmorphisms. Proband 1 showed a small mouth, a single median eye and a proboscis abpve the eye, while proband 2 showed hypotelorism, a flat nose, cleft lip and cleft palate. Both had alobar holoprosencephaly.
    Aberration: Double translocation
    Chromosomal Aneuploidy: 1q+;7q-
    Index Terms: Holoprosencephaly
  • Couzin D A, Haites N, Watt J L, Johnston A W: Partial trisomy 7(q32 to qter) syndrome in two children. J. Med. Genet. 23:461-465, 1986. [PMC free article: PMC1049786] [PubMed: 3783625]
    Two families and two patients with different translocations are reported.
    Case 1: 46,XY,t(7;12)(q32;p13).,46,XX,der(12)t(7;12)(12qter->12p13::7q32->7qter)pat.,Case 2: 46,XX or XY,t(7;18)(q32;q23).,46,XY,der(18),t(7;18)(18pter->18q23::7q32->7qter)mat.
    Aberration: Reciprocal translocation
    Chromosomal Aneuploidy: 7q+
    Negative band
  • D''Alessandro E, Ligas C, Lo Re M L, Marcanio M P, Gentile T, Del Porto G: "Partial monosomy of 7q32 in a case of de novo rcp(7;15)(q32;q15)." J. Med. Genet. 31:413-415, 1994. [PMC free article: PMC1049877] [PubMed: 8064823]
    46,XX,rcp(7;15)(q32;q15)de novo.
    Proband was 4 years old.
    Aberration: Reciprocal translocation
    Chromosomal Aneuploidy: 7q-
    Negative band
  • Daniel A: Structural differences in reciprocal translocations. Potential for a model of risk in rcp. Hum. Genet. 51:171-182, 1979. [PubMed: 511145]
    Daniel A, Stewart L, Saville T, Brookwell R, Paull H, Purvis-Smith S, Lam-Po-Tang P R L C: Prenatal diagnosis in 3,000 women for chromosome, X-linked, and metabolic disorders. AJMG 11:61-75, 1982. [PubMed: 7065004]
    Registry No. 1730 in this report.
    46,XX,der(10),t(7;10)(q32;q25)mat.,46,XX,t(7;10)(q32;q26).
    Aberration: Reciprocal translocation
    Index Terms: Metabolic disorders
    Negative band
  • Ferguson-Smith M A: Gene mapping by exclusion. BD-OAS XI(No. 3):126-129, 1975. [PubMed: 1203470]
    t(7;13)(q32;q22).
    Aberration: Simple translocation
    Negative band
  • Finley B E, Seguin J H, Bennett T L, Ardinger R, Burlbaw J, Levitch L, Keifer C, Pasztor L: Terminal deletion of 7q presenting in utero with a truncus arteriosus and nonimmune hydrops. AJMG 47:221-222, 1993. [PubMed: 8213909]
    Patient TB was seen at 27 weeks and was 32 years old.
    46,XX,del(7)(pter -> q32:).
    The infant, with MCA, died at the age of 8 weeks.
    Aberration: Terminal deletion
    Chromosomal Aneuploidy: 7q-
    Index Terms: Nonimmune hydrops,Truncus arteriosus
    Negative band
  • Friedrich U, Osterballe O, Stenbjerg S, Jorgensen J: A girl with karyotype 46,XX,del(7)(pter to q32:). Hum. Genet. 51:231-235, 1979. [PubMed: 511152]
    Parents had normal karyotypes. Patient died after 8 months.
    Aberration: Terminal deletion
    Negative band
  • Same entry as in 01q320,01p120 (Gadow E C et al, 1991).
  • Gadow E C, Lippold S, Otano L, Serafin E, Scarpati R, Matayoshi T: Chromosome rearrangements among couples with pregnancy losses and other adverse reproductive outcomes. AJMG 41:279-281, 1991. [PubMed: 1789279]
    46,XX,t(7;9)(q32;q13).
    Aberration: Reciprocal translocation
    Index Terms: Pregnancy ... loss
    Negative band
  • Harris E L, Wappner R S, Palmer C G, Hall B, Dinno N D, Seashore M R, Breg W R: 7q deletion syndrome (7q32 to 7qter). Clin. Genet. 12:233-238, 1977. [PubMed: 912940]
    Case 1 L.H. in this report (reported earlier by Harris et al, 1977).
    Case 2 M.J. (reported earlier by Dinno et al, 1977).
    Case 3 R.T. in this report.
    46,XX,del(7)(q32:).&Karyotypes of both parents were normal.
    Case 4 F.C. in this report (220573).
    46,XY,del(7)(q32:).&Karyotypes of both parents were normal. Common features of patients are: growth deficiency, developmental delay, prominent forehead, bulbous nasal tip, abnormally shaped ears, cleft lip and/or palate, genital abnormalities, and simian creases.
    Aberration: Terminal deletion
    Index Terms: Cleft lip/palate,Ears ... accessory,Forehead ... prominent,Genitalia ... anomalies
    Negative band
  • Kajii T, Murano I: A 7q- son of an XYY father. Jpn. J. Hum. Genet. 29:387-389, 1984. [PubMed: 6533358]
    46,XY,del(7)(pter->q32:).
    Father S. N., 031049.
    47,XYY.
    Aberration: Terminal deletion
    Negative band
  • Kalousek D 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. 736.
    46,XY,t(7;12)(q32;q24)pat.
    Aberration: Reciprocal translocation
    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 No. 38=46,XY,der(7)ins(13;7)(q32;q32q34)mat.,dim(7q32->qter).
    Case ascertained prenatally.
    Aberration: Direct insertion between two chromosomes
    Chromosomal Aneuploidy: 7q-
  • Klasen M, Schmid M, Hansmann I, Grimm T: Partial trisomy 7q in two siblings. Ann. Genet. 26:100-102, 1983. [PubMed: 6604481]
    46,XX,t(7;9)(7pter->7q32::9p24->9pter;9qter->9p24::7q32->7qter).,46,XX and XY,der(9)t(7;9)(q32;p24)mat.
    Aberration: Reciprocal translocation
    Negative band
  • Kousseff B G, Hsu L Y F, Paciuc S, Hirschhorn K: A partial long arm deletion of chromosome 7: 46,XY,del(7)(q32). J. Med. Genet. 14:144-147, 1977. [PMC free article: PMC1013536] [PubMed: 192866]
    Case (031273) in this report.
    46,XY,del(7)(pter -> q32:).
    Mother''s karyotype is normal and father refused to be studied. Major anomalies were microcephaly, synbrachydactyly, diastasis recti, hypospadias, short neck, and widely-spaced nipples.
    Aberration: Terminal deletion
    Index Terms: Hypospadias,Microcephaly,Neck ... short,Synbrachydactyly
    Negative band
  • Loffler J, Utermann B, Duba H C, Mayr U, Utermann G, Erdel M.: Mental and psychomotoric retardation in two brothers with pure partial trisomy 7q32-q34 due to a maternal insertion (14;7). AJMG 91:291-297, 2000. [PubMed: 10766986]
    46,XY,der(14)ins(14;7)(q13;q32q34).
    The 26 year old proband was referred because of mental and developmental retardation. They both had seizures disorder, generalized muscular hypertonia, kyphoscoliosis and a prominent midface.
    Aberration: Direct insertion between two chromosomes
    Chromosomal Aneuploidy: 7q+
  • Magenis R E: Personal communication, 1978.
    46,XX,del(7)(pter -> q32:).
    Aberration: Terminal deletion
    Negative band
  • McGhee E M, Klump C J, Bitts S M, Cotter P D, Lammer E J.: Candidate region for Coffin-Siris syndrome at 7q32->34. AJMG 93:241-243, 2000. [PubMed: 10925390]
    46,XX,t(7;22)(q32;q11.2)de novo
    Patient was 11 years old with bushy eyebrows, long eyelashes, nial hypoplasia, and hypoplastic fifth finger.
    Aberration: Reciprocal translocation
    MIM#: 135900
    Index Terms: Coffin-Siris syndrome
    No band
  • Nielsen K B, Egede F, Mouridsen I, Mohr J: Familial partial 7q monosomy resulting from segregation of an insertional chromosome rearrangement. J. Med. Genet. 16:461-466, 1979. [PMC free article: PMC1012594] [PubMed: 537020]
    46,XX or XY,der(7)ins(13;7)(q32;q32q34).
    Pedigree No. III.10 in this report.
    Severe retardation, slight hypertelorism, mild synophrys, bulbous nose and large mouth.
    Pedigree No. III.11 in this report.
    Mild mental retardation, face slightly dysmorphic, and hypertelorism, a flat nasal bridge with a broad bulbous tip, a broad, slightly receding chin, wide mouth and ears low set.
    Pedigree No. III.8 in this report.
    Moderate mental retardation, bilateral optic atrophy and hypermetropia, slight columnar scoliosis and slightly peculiar facies with a bulbous nose, hypertelorism and a large mouth.
    Aberration: Direct insertion between two chromosomes
    Index Terms: Chin ... receded,Ears ... low-set,Facial dysmorphism,Hypertelorism,Mouth ... large,Mouth ... wide,Ocular (optic) anomalies,Scoliosis,Synophrys
    Negative band
  • Pokala P, Acs G.: A constellation of dental anomalies in a chromosomal deletion syndrome (7q32): case report. Pediat. Dent. 16:306-309, 1994. [PubMed: 7937265]
    46,XY,del(7)(q32)
    The patient presented at the age of 7 years with a suggestion of trichodentoosseous syndrome (TDO), significant craniofacial stigmata, global developmental delay, hypodontia, accessory roots, dens invaginatus, and hypoplastic enamel. At age 15, he is nonambulatory, nonverbal, and has profound hearing loss.
    Aberration: Terminal deletion
    Chromosomal Aneuploidy: 7q-
    Index Terms: Dental anomalies in 7q-
  • Randall-Pinto S, Johnson G, Lopes V, Teshima I, Wyatt P.: Two cases of partial trisomy 10q and monosomy 7q with features similar to Cornelia de Lange syndrome. AJHG 67 (Suppl. 2):126, 2000.
    Father=46,XY,t(7;10)(q32;q24).,Fetus=46,XY,der(7)t(7;10)(q32;q24)pat.
    An older child died at age of 2 days with Cornelia de Lange syndrome. At the time of amniocentesis, holoprosencephaly was detected. Pregnancy was terminated.
    Aberration: Reciprocal translocation
    MIM#: 122470
    Chromosomal Aneuploidy: 7q-;10q+
    Index Terms: Cornelia de Lange syndrome,SH/SF deformity
    No band
  • Rushton A R, 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. 728.
    46,XY,t(7;10)(q32;q22)pat.
    Aberration: Reciprocal translocation
    Negative band
  • Scheres J M J C, Hustinx T W J, Weemaes C M R: Chromosome 7 in ataxia telangiectasia. J. Ped. 97:440-441, 1980. [PubMed: 7411307]
    inv 7(p13q32) was found in 2 brothers and a third patient.
    Index Terms: Ataxia-telangiectasia
    Negative band
  • Schonberg S, Golbus M S, 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. 721.
    46,XY,t(7;9)(q32;p23).
    Aberration: Reciprocal translocation
    Negative band
  • Schrander-Stumpel C, Schrander J, Fryns J P, Hamers G: Caudal deficiency sequence in 7q terminal deletion. AJMG 30:757-761, 1988. [PubMed: 3055986]
    D. C.
    46,XY,del(7)(pter -> q32:)de novo.
    Anomalies seen were: a short nose with a bulbous tip, prominent forehead, large ears with simple helix, slight antimongoloid slant, thin upper lip, broad mouth, micrognathia with a prominent fat pad on the chin, glandular hypoplasia, and clubfeet.
    Aberration: Terminal deletion
    MIM#: 182940
    Chromosomal Aneuploidy: 7q-
    Index Terms: Caudal dysplasia
    Negative band
  • Schwartz S, Meekins J A, Panny S R, Sun C C J, Cohen M M: Cebocephaly-Holoprosencephaly in a newborn girl with a terminal 7q deletion \46,XX,del(7)(pter to q32:)\. AJMG 15:141-144, 1983. [PubMed: 6859113]
    Aberration: Terminal deletion
    Index Terms: Cebocephaly-holoprosencephaly,Holoprosencephaly
    Negative band
  • Stetka D 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. 746.
    46,XY,t(7;13)(q32;q14)mat.
    Aberration: Reciprocal translocation
    Negative band
  • Tentler D, Brandberg G, Betancur C, Gillberg C, Anneren G, Orsmark C, Green E D, Carlsson B, Dahl N.: A balanced reciprocal translocation t(5;7)(q14;q32) associated with autistic disorder: molecular analysis of the chromosome 7 breakpoint. AJMG DOI=10.1002/ajmg.1607, 2001. [PubMed: 11803521]
    The patient was 7 years old when the diagnosis of AD was confirmed.
    46,XX,der t(5;7)(q14;q32)mat.
    Mother does not have autism. Sisters and mother have the same translocation.
    Aberration: Reciprocal translocation
    MIM#: 209850
    Index Terms: Autistic disorder
  • Thompson B H, Palmer C G: Familial 7,18 translocation. AJHG 26:87A, 1974.
    46,XX,t(7;18)(q32;q23).,46,XX and XY,der(7)der(18)t(7;18)(q32;q23)mat and pat.,Translocation was found in three generations.
    Aberration: Simple translocation
    Negative band
  • Tsukamoto H, Inui K, Taniike M, Kamiyama K, Hori M, Sumi K, Okada S: Different clinical features in monozygotic twins: a case of 7q- syndrome. Clin. Genet. 43:139-142, 1993. [PubMed: 7684659]
    Blood: Twin 1 and 2-mos46,XY/46,XY,del(7)(q32->qter)[70%].,Skin: Twin 1-46,XY[44 cells]; Twin 2-46,XY,del(7)(q32)[ 21 cells].
    Twin 1 had a normal phenotype but twin 2 had MCA/MR.
    Aberration: Terminal deletion
    Chromosomal Aneuploidy: 7q-
    Index Terms: Monozygotic twins ... differing phanotype
    Negative band
  • Uehara S, Takabayashi T, Okamura K, Yajima A: The outcome of pregnancy and prenatal chromosomal diagnosis of fetuses in couples including a translocation carrier. Prenat. Diag. 12:1009-1018, 1992. [PubMed: 1287636]
    46,XY,t(7;13)(q32;q34).&46,XX,+7q.
    The description of the fetal karyotype does not conform to the ISCN (ie is it 47,+7q or is it q+?).
    Aberration: Reciprocal translocation
    Negative band
  • Voullaire L E, Webb G C, Leversha M: Fragile X testing in a diagnostic cytogenetics laboratory. J. Med. Genet. 26:439-442, 1989. [PMC free article: PMC1015647] [PubMed: 2473208]
    46,XY,t(7;9)(q32;q34)de novo.
    Aberration: Simple translocation
    Negative band
  • 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)(q32;q112).
    Negative band
  • Wang S G, Ren G Q, Xue H, Shen Q Y, Song L L, Yuan P: Cytogenetic study of 1633 cases. Chin. Med. J 101:231-236, 1988. [PubMed: 3138079]
    46,XX,t(7;14)(q32;q13).
    Study done in couples with abortions or stillbirths.
    Aberration: Simple translocation
    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]
    Data from Prenatal Diagnostic Laboratory, New York.
    46,XY,t(7;22)(q32;q11).
    Spondylocostal dysplasia, died at 2 years of age.
    Aberration: Reciprocal translocation
    Index Terms: Spondylocostal dysplasia
    Negative 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 1 was 8 years old.
    46,XY,del(7)(pter -> q32:)de novo.
    Aberration: Terminal deletion
    Negative band
  • Zackowski J L, Raffel L J, McDaniel L D, Schwartz S: "A paternal balanced translocation \t(7;22)(q32;q13.3)\ leading to reciprocal unbalanced karyotypes in two consecutive pregnancies." Ann. Genet. 33:113-116, 1990. [PubMed: 2241085]
    46,XY,t(7;22)(q32;q13.3).,Case 1:46,XX,der(22)t(7;22)(22pter->22q13.3::7q32->7qter)pat.,Case 2:46,XY,der(7),t(7;22)(7pter->7q32::22q13.3->22qter)pat.
    Aberration: Reciprocal translocation
    Negative band
Copyright © 2011-2013, Digamber Borgaonkar.
Bookshelf ID: NBK107039
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