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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- 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).46,XY,rcp(7;8)(q34;q13).Three generation family with carriers and miscarriages is reported. Phenotypic abnormalities are thought to be independent of the translocation.Aberration: Reciprocal translocationNegative 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 1.46,XY,der(17),t(7;17)(17qter->17p13.1::7q34->7qter)pat.Patient had clinical characteristics of Miller-Dieker syndrome.Patients 2 to 5.46,XY,der(7),t(7;17)(7pter->7q34::17p13.1->17pter)pat.Characteristics of SLO syndrome were present.Aberration: Reciprocal translocationMIM#: 270400,247200Chromosomal 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]46,XX,del(7)(q34->q36.2)Aberration: Interstitial deletionChromosomal Aneuploidy: 7q-Index Terms: Long QT syndrome
- Borgaonkar D S: Unpublished data, 1992.Case No. 10756.46,XY,t(7;14)(q34;q21.2).The infant has MCA/MR including septic optic dysplasia.Aberration: Reciprocal translocationIndex Terms: Opic dysplasia ... septicNegative 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;15)(q34;q21).Aberration: Reciprocal translocationNegative 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]46,XY,der(7),t(7;12)(q34;p13)pat.Aberration: Simple translocationIndex Terms: CordocentesisNegative 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 deletionChromosomal 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).46,XX,t(7;18)(q34;p11).,46,XY,der(18)(18qter->18p11::7q34->7qter)mat.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 translocationChromosomal Aneuploidy: 7q+,18p-Negative band
- 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 translocationNegative 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.46,XX,der(10),t(7;10)(q34;p15)mat,18ph+.Aberration: MA,STNegative band
- 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 4:46,XX,der(7)t(7;12)(q34;p13.1)mat.The infant died at 8 months of age. She was evaluated because of poor muscle tone, poor feeding, and dysmorphic features.Aberration: Reciprocal translocationChromosomal 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]46,XY,t(7;14)(q34;q12).Aberration: Reciprocal translocationIndex Terms: Habitual abortionsNegative band
- 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 deletionNegative band
- 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 translocationChromosomal 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: DuplicationChromosomal Aneuploidy: 7q+;13q-
- 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]46,XX,t(7;15)(q34;q15).Aberration: Reciprocal translocationNegative band
- 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 246,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,DUChromosomal Aneuploidy: 7q+Negative band
- 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 translocationMIM#: 236100Index Terms: Cyclop(ia)(s)Negative band
- 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 deletionIndex Terms: ColobomaNegative 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.46,XY,del(7)(q34).Aberration: Terminal deletionChromosomal 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 deletionChromosomal 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 translocationIndex Terms: Rubinstein-Taybi syndrome,Juvenile rhematoid arthritisNegative band
- 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):46,XY,del(7)(pter->q34:).The patient was 20 years old.Aberration: Terminal deletionMIM#: 110100Chromosomal Aneuploidy: 7q-Index Terms: BPES, Blepharophimosis, epicanthus inversusNegative band
- 07q340 - Chromosomal Variation in Man07q340 - Chromosomal Variation in Man
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