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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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07q212

7q21.2
  • Courtens W, Vroman S, Vandenhove J, Wiedemann U, Schinzel A.: Pre- and perinatal findings in partial trisomy 7q resulting from balanced parental translocations t(7;21) and t(4;7). Prenat. Diag. 21:642-648, 2001. [PubMed: 11536263]
    Patient 1=46,XX,der(21)t(7;21)(q21.2;p12)mat.,Patient 2=46,XX,der(4)t(4;7)(q35;q21.2)pat.
    Patient 1, a 19 week old fetus with cleft palate, anomalies of the great vessels, intestinal malrotation and uterus bicornis. ,Patient 2, the newborn, who died on the second day after birth, had cleft palate, cerebellar hypoplasia, and anomalies of pancreas, gall bladder and appendix.
    Aberration: Reciprocal translocation
    Chromosomal Aneuploidy: 7q+;4q-
  • DeBerardinis R J, Conforto D, Russell K, Kaplan J, Kollros P R, Zackai E H, Emanuel B S.: Myoclonus in a patient with a deletion of the epsilon-sarcoglycan locus on chromosome 7q21. AJMG 121A:31-36, 2003. [PubMed: 12900898]
    46,XY,der del(7)(q21.2q21.3)pat.ish del(7)(SGCE+)pat
    The 32 month old patient had myoclonus-dystonia syndrome (MDS), microcephaly, short stature, dysmorphic face and language delay.
    Deletion was about 9.0-15 Mbp. Maternal imprinting of the SGCE gene is shown.
    Aberration: Interstitial deletion
    Chromosomal Aneuploidy: 7q-
    Index Terms: Myoclonus-dystonia syndrome (MDS),sarcoglycan epsilon (SGCE)
  • 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]
    46,XX,-18,+der(18),t(7;18)(q21.2;q21.3)pat.
    Aberration: Simple translocation
    Index Terms: Cordocentesis
    Negative band
  • Lopez-Rangel E, Hrynchak M, Friedman J M: Cardio-Facio-Cutaneous (CFC) syndrome in a child carrying an inherited inversion of chromosome 7. AJMG 47:326-329, 1993. [PubMed: 8135275]
    Patient M.M.
    46,XX,der inv(7)(q21.1q31.2)mat.
    Patient''s mother and grandmother were carriers of the inversion but were phenotypically normal.
    Aberration: Inversion paracentric
    MIM#: 115150
    Index Terms: Cardiofaciocutaneous syndrome
    Negative band
  • Lukusa T, Fryns J-P.: Syndrome of facial, oral, and digital anomalies due to 7q21.2->q22.1 duplication. AJMG 80:454-458, 1998. [PubMed: 9880208]
    Patient B.C. was 18 years old and moderately mentally retarded.
    46,XY,der(6)ins(6;7)(q16.2;q21.2q22.1).,Brother=46,XY,ins(6;7)(q16.2;q21.2q22.1).
    The syndrome is characterized by macrocephaly with frontal bossing, hypertelorism, small palpebral fissures with downward slant, lobulated tongue, multiple intrabuccal frenula, oligodontia and enamel hypoplasia, cutaneous syndactyly, and broad and short fingertips with fetal pads, broad thumbs, and halluces.
    Aberration: Direct insertion between two chromosomes
    Chromosomal Aneuploidy: 7q+
  • Marinoni J C, Stevenson R E, Evans J P, Geshuri D, Phelan M C, Schwartz C E.: Split foot and developmental retardation associated with a deletion of three microsatellite markers in 7q21.2-q22.1. Clin. Genet. 47:90-95, 1995. [PubMed: 7606850]
    Patient D.A.T. (GGC-43073):
    46,XY,del(7)(q21.2q22.1)de novo.
    Patient at 28 mo also showed triangular nose, depressed nasal bridge, and arched eyebrows.
    PCR showed deletion of D7S527, D7S479, and D7S554 in the paternally derived chromosome 7 thus pinpointing the critical region for the ectrodactyly locus
    Aberration: Interstitial deletion
    MIM#: 183600
    Chromosomal Aneuploidy: 7q-
    Index Terms: Split foot
    Negative band
  • Robinet C, Douvier S, Kien P K V, Favre B, Luquet I, Nadal N, Nivelon-Chevallier A, Mugneret F.: Prenatal diagnosis of a partial trsiomy 7q in two fetuses with bilateral ventriculomegaly. Prenat. Diag. 20:936-938, 2000. [PubMed: 11113903]
    Mother=46,XX,t(7;13)(q21.2;p12).,Fetus=46,XY,der(13)t(7;13)(q21.2;p12)mat.
    Recurrent bilateral ventriculomegaly was detected by ultrasound.
    Two more balanced translocation pregnancies were reported.
    Aberration: Reciprocal translocation
    Chromosomal Aneuploidy: 7q+
    Index Terms: bilateral ventriculomegaly
    No band
  • Schrock E, Veldman T, Padilla-Nash H, Ning Y, Spurbeck J, Jalal S, Shaffer L G, Papenhausen P, Kozma C, Phelan M C, Kjeldsen E, Schonberg S A, O''Brien P, Biesecker L, du Manoir S, Ried T.: Spectral karyotyping refines cytogenetic diagnostics of constitutional chromosomal abnormalities. Hum. Genet. 101:255-262, 1997. [PubMed: 9439652]
    Case No. LS3:
    46,XY,t(7;21;22)(q21.2;q21;q13.3)
    Developmental delay in the patient.
    Aberration: Complex translocation
    Index Terms: SKY
  • Slavotinek A, Maher E, Gregory P, Rowlandson P, Huson S M.: The phenotypic effects of chromosome rearrangement involving bands 7q21.3 and 22q13.3. J. Med. Genet. 34:857-861, 1997. [PMC free article: PMC1051097] [PubMed: 9350823]
    Proband II-1=46,XX,dir ins(22;7)(q13.3;q21.2q22.1).,Son, III-3=46,XY,der(22)dir ins(22;7)mat.,Daughter, III-5=46,XX,der(7)dir ins(22;7)mat.
    The child monosomic for band 7q213 has a split hand/split foot (SHSF) anomaly.
    Aberration: Direct insertion between two chromosomes
    Chromosomal Aneuploidy: 7q+;7q-
  • Stetten G, Charity L L, Kasch L M, Scott A F, Berman C L, Pressman E, Blakemore K J.: A paternally derived inverted duplication of 7q with evidence of a telomeric deletion. AJMG 68:76-81, 1997. [PubMed: 8986281]
    46,XX,inv dup del(7)(pter->q36::q36->q212:)pat.
    The fetus was delivered at 20 5/7 weeks because of complications resulting from oligohydramnios, pulmonary hypoplasia and premature rupture of the membrane.
    Aberration: DU,TD
    Chromosomal Aneuploidy: 7q-
    Negative band
  • Tanemura M, Suzumori K, Nishikawa N, Ishihara Y.: Multicolor spectral karyotyping for complex chromosomal rearrangements in repeated abortion or congenital anomalies. Prenat. Diag. 21:1123-1128, 2001. [PubMed: 11787036]
    Family 5 was ascertained because of family history.
    46,XX,der(7)(7pter->7q21.2::8q21.1->8pter),der(8)(7qter->7q31.2::7q22::8q21.1->8qter).,It is not exactly clear if there is inversion insertion. ,A subsequent fetal female had the same chromosome make-up as her mother.
    Aberration: Direct insertion between two chromosomes
    Index Terms: SKY
Copyright © 2011-2013, Digamber Borgaonkar.
Bookshelf ID: NBK106074
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