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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-.
Chromosomal Variation in Man: A Catalog of Chromosomal Variants and Anomalies: Online NLM Version [Internet].
Show details- 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 translocationChromosomal 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+)patThe 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 deletionMIM#: 159900,604149Chromosomal 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 translocationIndex Terms: CordocentesisNegative 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 paracentricMIM#: 115150Index Terms: Cardiofaciocutaneous syndromeNegative 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 chromosomesChromosomal 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 locusAberration: Interstitial deletionMIM#: 183600Chromosomal Aneuploidy: 7q-Index Terms: Split footNegative 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 translocationChromosomal Aneuploidy: 7q+Index Terms: bilateral ventriculomegalyNo 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 translocationIndex 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 chromosomesChromosomal 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,TDChromosomal 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 chromosomesIndex Terms: SKY
- 07q212 - Chromosomal Variation in Man07q212 - Chromosomal Variation in Man
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