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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- Atkin J F, 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. 755.46,XY,t(7;15)(p22;q22)pat.Aberration: Reciprocal translocationNegative band
- Baccichetti C, Artifoni L, Zanardo V: Deletions of the short arm of chromosome 7 without craniosynostosis. Clin. Genet. 21:348-349, 1982. [PubMed: 7116680]Parental karyotypes were normal. Patient C. P. G. was 2 years old.Aberration: Terminal deletionNegative 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 4 was a stillborn:7qter -> 7p22::7q21 -> 7qter.Aberration: Recombinant chromosomesIndex Terms: Still born (premature)Negative band
- Bendel R P, Baldinger S, Millard C, Arthur D C: Two successive partial trisomies for opposite halves of chromosome 22 in a mother with a balanced translocation. J. Med. Genet. 19:313, 1982. [PMC free article: PMC1048905] [PubMed: 7120324]46,XX,t(7;22)(p22;q13).,46,XX,-7,+der(7)t(7;22)(7qter->7p22::22q13->22qter)mat.,47,XX,+der(22)t(7;22)(p22;q13)mat.Aberration: Simple translocationNegative band
- Biesecker L G, Cox B, Glover T W: Severe anomalies associated with ring chromosome 7. AJMG 40:429-431, 1991. [PubMed: 1746606]mos46,XY,r(7)(p22q36)de novo(35/40 cells)/46,XY,partial dup r(7)de novo(2/40)/46,XY,dup r(7)de novo(1/40)/46,XY,der smaller r(7)de novo(1/40)/45,XY,-7(1/40).The newborn infant had polyasplenia sequence, intrauterine growth retardation, cutaneous nevi among other anomalies. Patient died 28 after birth.Aberration: Ring chromosomeIndex Terms: Polyasplenia sequenceNegative band
- Same entry as in 02q330,05q320 (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;8)(p22;q12); t(7;9)(p22;p24); t(7;13)(p22;q14); t(7;15)(p22;q22).Aberration: Reciprocal translocationNegative band
- Breg W R, Allderdice P W, Miller D A, Miller O J: Quinacrine fluorescence patterns and terminal DNA labelling of human C group chromosomes. Nature (New Biol.) 236:76-78, 1972. [PubMed: 4502457]
Zackai E H, Breg W R: Ring chromosome 7 with variable phenotypic expression. Cytogenet. Cell Genet. 12:40-48, 1973. [PubMed: 4145271]
Zackai E H, Stolle C A.: A new twist: some patients with Saethre-Chotzen syndrome have a microdeletion syndrome. AJHG 63:1277-1281, 1998. [PMC free article: PMC1377538] [PubMed: 9792855]Case No. JC (091069) in the report of Breg et al.46,XY,r(7).Cases 1 and 2 in this report.45,XY/46,XY,r(7)(p22q36).&45,XY,-7/46,XY,r(7)(p22 -> q36).Aberration: Ring chromosomeMIM#: 101400Index Terms: Saethre-Chotzen syndromeNegative band - Tierney I, Axworthy D, Smith L, Ratcliffe S G: Balanced rearrangements of the autosomes: results of a longitudinal study of a newborn survey population. J. Med. Genet. 21:45-51, 1984. [PMC free article: PMC1049205] [PubMed: 6694184]46,XX,t(7;11)(p22;q23).&"46,XX,der(7)der(11)t(7;11)(p22;q23)mat."Aberration: Reciprocal translocationNegative band
- Cannizzaro L A, Ladda R L, 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. 769.46,XY,t(7;19)(p22;q13)mat.Aberration: Reciprocal translocationNegative band
- Caramia G M, Baroncini A, Osimani P, Forabosco A: Ring chromosome 7: report of the fifth case. Europ. J. Ped. 149:475-476, 1990. [PubMed: 2189730]mos46,XY/46,XY,r(7)(p22q36).The 13-year-old boy presented with growth failure, microcephaly, achromic spots and multiple pigmented naevi.The most frequent findings in the four patients described so far were short stature, microcephaly, and dermatological abnormalities.Aberration: Ring chromosomeNegative band
- Chandley A C, Edmond P, Christie S, Gowans L, Fletcher J M, Frackiewicz A, Newton M S: Cytogenetics and infertility in man. 1. Karyotype and seminal analysis. Results of a five-year survey of men attending a subfertility clinic. Ann. Hum. Genet. 39:231-254, 1975. [PubMed: 1052767]Case R.F. (PK 230/11/73) in this report.46,XY,t(7;17)(p22;q21).&The translocation is a new mutation and wife had primary amenorrhea and a small uterus.Aberration: Simple translocationIndex Terms: Sterility ... maleNegative band
- Cobben J M, Verheij J B G M, Eisma W H, Robinson P H, Zwierstra R P, Leegte B, Castedo S. : Bilateral split hand/foot malformation and inv(7)(p22q21.3). J. Med. Genet. 32:375-378, 1995. [PMC free article: PMC1050433] [PubMed: 7616545]46,XY,inv(7)(p22q21.3)de novo.Besides the split hand/foot anomaly, an hemangiomatous malformation was present on the right lower arm and hand.Aberration: Inversion pericentricMIM#: 183600Index Terms: Split hand/foot malformation (bilateral)Negative band
- Cohen O, Cans C, Mermet M-A, Demongeot J, Jalbert P.: Viability threshold for partial trisomies and monosomies. A study of 1,159 viable unbalanced reciprocal translocations. Hum. Genet. 93:188-194, 1994. [PubMed: 8112744]46,XY,der(8)t(7;8)(p22;q12).Case from European prenatal diagnosis register.Aberration: Reciprocal translocation
- De Arce M A, Grace P M, McManus S: A computer model for the study of segregation in reciprocal translocation carriers: application to 20 new cases. AJMG 24:519-525, 1986. [PubMed: 3755291]t(7;13)(p22;q22).Aberration: Reciprocal translocationNegative band
- Goodman B K, Stone K, Coddett J M, Cargile C B, Gurewitsch E D, Blakemore K J, Stetten G.: Molecular cytogenetic analysis and clinical findings in a newborn with prenatally diagnosed rec(7)dup(7q)inv(7)(p22q31.3)pat. Prenat. Diag. 19:1150-1156, 1999. [PubMed: 10590434]46,XY,inv(7)(p22q31.3).,46,XY,rec(7)dup(7q)inv(7)(p22q31.3)patAnomalies were detected and at birth MCA were present. Follow up at 8 mo showed hydrocephalus and other anomalies.Aberration: PI,RE
- Hatzissevastou-Loukidou H, Bouli-Kalachani A, Malaka-Zafiriou A, Mantalenakis S: Reciprocal balanced translocation of the long arm of chromosome 8 to the short arm of chromosome 7 in a woman with two spontaneous abortions. Hum. Genet. 70:379, 1985. [PubMed: 4018803]Patient was 28 years old, and had one 4 year old child.46,XX,t(7;8)(p22;q22).Aberration: Reciprocal translocationIndex Terms: Fetal wastage (Habitual recurrent, spontaneous abortion)Negative band
- Hunter A G W, Rimoin D L, Koch U M, MacDonald G J, Cox D M, Lachman R S, Adomian G: "Chondrodysplasia punctata in an infant with duplication 16p due to a 7;16 translocation." AJMG 21:581-589, 1985. [PubMed: 4025390]46,XY,t(7;16)(p22;p13).&"46,XY,-7,+der(7),t(7;16)(7qter -> 7p22::16p13 -> 16pter)pat."Aberration: Simple translocationMIM#: 118650,215100Negative band
- Ishii F, Fujita H, Nagai A, Ogihara T, Kim H S, Okamoto R, Mino M.: Case report of rec(7)dup(7q)inv(7)(p22q22) and a review of the recombinants resulting from parental pericentric inversions on any chromosomes. AJMG 73:290-295, 1997. [PubMed: 9415687]Father and a brother:46,XY,inv(7)(p22q22).,Patient:46,XY,rec(7)dup(7q)inv(7)(p22q22)pat.The newborn had MCA including chondrodysplasia punctata and ASD.Aberration: PI,REChromosomal Aneuploidy: 7q+
- Jewett T, Marnane D, Stewart W, Hayworth-Hodge R, Finklea L, Klinepeter K, Rao P N, Pettenati M J.: Jumping translocation with partial duplications and triplications of chromosomes 7 and 15. Clin. Genet. 53:415-420, 1998. [PubMed: 9660064]46,XX,der(8)t(8;15)(q24.3;q24),der(15)t(7;15)(p22;q24).The patient was 2 yrs old with seizures, mild dysmorphic features.Aberration: JTChromosomal Aneuploidy: 7p+; 15q+
- Johnson G, Bachman R, Roed T, Riddewold P: "Partial trisomy 10p and familial translocation t(7;10)(p22;p12)." Hum. Genet. 35:353-356, 1977. [PubMed: 844878]46,XY,t(7;10)(p22;p12).,46,XY,t(7;10)(7qter->7p22::10p12->10pter;,10qter->10p12::7p22->7pter).Case 180376 in this report.46,XX,-7,+der(7)(7qter->7p22::10p12->10pter)pat.,The major abnormalities are: mottled skin, mid-facial hypoplasia, low percentiles for weight, length, and head circumference, and club feet.Aberration: Reciprocal translocationIndex Terms: Foot ... talipes equinovarus (club foot),Midface hypoplasia,Skin ... mottledNegative band
- Kadotani T, Kanata S, Naemura M, Namba Y, Matsuo N, Watanabe Y: A case with a long arm duplication of the No. 7 chromosome. Proc. Jpn. Acad. (Ser. B) 61:131-133, 1985.46,XX,dir dup(7)(q22 -> qter).Aberration: DuplicationNegative 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. 715.46,XY,t(7;8)(p22;q24.1)mat.Aberration: Reciprocal translocationNegative band
- Kaneko K, Saito F, Sunohara N, Ikeuchi T.: Cytogenetic analysis of 23 Japanese patients with amyotrophic lateral sclerosis. Clin. Genet. 47:158-160, 1995. [PubMed: 7634540]Patient 13 in this study.46,XX,der t(7;13)(p22;q21)mat.The patient was 21 years old.The mother and another sister were both healthy and carriers of the translocation.Aberration: Simple translocationMIM#: 105400Index Terms: Amytrophic lateral sclerosisNegative band
- Koiffmann C P, Diament A, de Souza D H, Wajntal A: Ring chromosome 7 in a man with multiple congenital anomalies and mental retardation. J. Med. Genet. 27:462-464, 1990. [PMC free article: PMC1017186] [PubMed: 2395166]46,XY,r(7)(p22q36).Patient was 39 years old.The characteristics found in patients with ring 7 are prenatal onset growth deficiency, bone anomalies, pigmentary or vascular skin changes, and ocular and genital anomalies.Aberration: Ring chromosomeNegative band
- Korner H, Agricola H, Bayer H: "Translocation t(7p+;13q-) associated with recurrent abortion." Humangenetik 28:83-86, 1975. [PubMed: 1171079]46,XX,rcp(7;13)(p22;q14).&"46,XX,rcp(7;13)(7qter -> 7p22::13q14 -> 13qter;13pter -> 13q14::7p22 -> 7pter)."Aberration: Reciprocal translocationIndex Terms: Fetal wastage (Habitual recurrent, spontaneous abortion)Negative band
- Lindenbaum R H, Bobrow M: Reciprocal translocations in man. 3:1 meiotic disjunction resulting in 47- or 45- chromosome offspring. J. Med. Genet. 12:29-43, 1975. [PMC free article: PMC1013228] [PubMed: 123589]Case 4 (CD/309) in this report.Individual II-2 in the pedigree.46,XX,t(7;21)(p22;q22).Individual III-1 in the pedigree is a mosaic.46,XY/47,XY,+der(21)t(7;21)(p22;q22)mat.Individual III-2 in the pedigree.46,XX,der(7)der(21)t(7;21)(p22;q22)mat.Individual III-3 in the pedigree.47,XY,+der(21)t(7;21)(p22;q22)mat.Aberration: Simple translocationNegative band
- Maciel A T, Hackel C, Magna L A, Pinto W, Jr, Beiguelman B: "Partial trisomy 10q in a child born to a woman with a reciprocal translocation t(7;10)(p22;q24): case report and review of the literature." Brazil. J. Genet. 9:101-113, 1986.46,XX,t(7;10)(p22;q24).&"46,XX,der t(7;10)(p22;q24)mat."&"46,XX,-7,+der(7)t(7;10)(7qter -> 7p22:10q24 -> 10qter)mat."Patient was 3 years old with congenital malformations.Aberration: Reciprocal translocationChromosomal Aneuploidy: 10q+,7p-Negative band
- Marcallo F A, Werneck L C, Pilotto R F, Opitz J M: "Hemihypotrophy in a girl with a translocation t(13q;7p)." Europ. J. Ped. 124:167-171, 1977. [PubMed: 837945]46,XX,t(7;13)(p22;q12).&"46,XX,t(7;13)(7qter -> 7p22::13q12 -> 13qter;13pter -> 13q12::7p22 -> 7pter)."&In skin cells, apparently the small chromosome 13 was not found and it is stated that the patient may indeed be a mosaic. Both parents had normal chromosomes. The patient was ten years old.Aberration: Reciprocal translocationIndex Terms: HemihypertrophyNegative band
- Mascarello J T, Hubbard V: Routine use of methods for improved G-band resolution in a population of patients with malformations and developmental delay. AJMG 38:37-42, 1991. [PubMed: 2012130]46,XY,del(7)(p22)mat.Aberration: Terminal deletionChromosomal Aneuploidy: 7p-Index Terms: High resolution G-bandingNegative band
- Mehraein Y, Ehlhardt S, Wagner A, Gottert E, Tilgen W, Zang K D, Dill-Muller D.: Somatic mosaicism of chromosome 7 in a highly proliferating melanocytic congenital naevus in a ring chromosome 7 patient. AJMG DOI=, 2004. [PubMed: 15523614]46,XY,r(7)(p22q36)[44]/46,XY[8].,45,XY,-7[3]/47,XY,r(7),+r(7)[2]/47,XY,dup r(7)[3].The patient was 14 years old with multiple congenital naevi.Aberration: Ring chromosomeChromosomal Aneuploidy: 7p-;7q-Index Terms: Proliferating melanocytic congenital naevus
- Orye E, Laureys G, Verhaaren H: Mosaic and non-mosaic trisomy 15q2. Ann. Genet. 28:58-60, 1985. [PubMed: 3874591]46,XX,t(7;15)(p22;q15).Patient 2: V. C.46,XY,-7,+der(7),t(7;15)(7qter -> 7p22::15q15 -> 15qter)mat.Aberration: Simple translocationNegative band
- Palmer C, 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. 762.46,XY,t(7;18)(p22;q11)mat.Aberration: Reciprocal translocationNegative band
- Peakman D C, Robinson A: Indications for chromosome analysis: Effect of new banding techniques. J. Ped. 88:166-167, 1976. [PubMed: 54413]46,XY,-7,+t(7;9)(p22;p13).Aberration: Simple translocationNegative band
- Pelliccia F, Rocchi A: DAPI-inducible common fragile sites. Cytogenet. Cell Genet. 42:174-176, 1986. [PubMed: 3731886]Aberration: Fragile sitesNegative band
- Popp S, Schulze B, Granzow M, Keller M, Holtgreve-Grez H, Schoell B, Brough M, Hager H-D, Tariverdian G, Brown J, Kearney L, Jauch A.: Study of 30 patients with unexplained developmental delay and dysmorphic features or congenital abnormalities using conventional cytogenetics and multiplex FISH telomere (M-TEL) integrity assay. Hum. Genet. DOI=10.1007/s00439-002-0739-x; 111:31-39, 2002. [PubMed: 12136233]Case 6, was 3 1/4 years old:46,XX,der(7)t(7;7)(p22;q36)de novoAberration: Simple translocationChromosomal Aneuploidy: 7p+;7q-Index Terms: Multiplex FISH (M-TEL) assay
- Lewanda A F, Green E D, Weissenbach J, Jerald H, Taylor E, Summar M L, Phillips J A III, Cohen M, Feingold M, Mouradian W, Clarren S K, Jabs E W.: Evidence that the Saethre-Chotzen syndrome locus lies between D7S664 and D7S507, by genetic analysis and detection of a microdeletion in a patient. AJHG 55:1195-1201, 1994. [PMC free article: PMC1918444] [PubMed: 7977380]The disease locus has been narrowed to an 8-cM region between D7S664 and D7S507.
Reid C S, McMorrow L E, McDonald-McGinn D M, Grace K J, Ramos F J, Zackai E H, Cohen M M, Jr, Jabs E W: Saethre-Chotzen syndrome with familial translocation at chromosome 7p22. AJMG 47:637-639, 1993. [PubMed: 8266989]46,XY,der(2)der(7)t(2;7)(p23;p22)mat.&"46,XX,t(2;7)(p23;p22)-mother."Both the patient and the mother had characteristics of the Saethre-Chotzen syndrome.Aberration: ST,IDMIM#: 101400Chromosomal Aneuploidy: 7p-Index Terms: Saethre-Chotzen syndromeNegative band - Rodr+¡guez L, Sanch+¡s A, Villa A, C+ínovas A, Peris S, Est+¡valis M, Pons S, Mart+¡nez-Fr+¡as M-L.: Ring chromosome 7 and sacral agenesis. AJMG 94:52-58, 2000. [PubMed: 10982483]46,XX,r(7)(p22q36)[86.7%] in 143 cells.The 19-month-old patient had microcephaly, growth and developmental delay, multiple angiomas, and partial sacral agenesis.Aberration: Ring chromosomeIndex Terms: Sacral agenesisNo band
- Schleiermacher E, Schliebitz U, Steffens C, Ronipe G, Schmidt U: Brother and sister with trisomy 10p: a new syndrome. Humangenetik 23:163-172, 1974. [PubMed: 4844639]46,XX,t(7;10)(p22;p11).&"46,XX,t(7;10)(7qter -> 7p22::10p11 -> 10pter;10qter -> 10p11::7p22 -> 7pter)."&"46,XX,der(7)der(10)t(7;10)(p22;p11)mat."&"46,XX and XY,-7,+der(7)t(7;10)(p22;p11)mat."&Both of these children are trisomic for the short arm of chromosome 10.Aberration: Reciprocal translocationNegative band
- Schnatterly P, Bono K L, Robinow M, Wyandt H E, Kardon N B, Kelly T E: Distal 15q trisomy: Phenotypic comparison of nine cases in an extended family. AJHG 36:444-451, 1984. [PMC free article: PMC1684424] [PubMed: 6711563]46,XX and XY,der(7)der(15)t(7;15)(p22;q23)mat and pat.&"46,XX or XY,-7,+der(7)t(7;15)(7qter -> 7p22::15q23 -> 15qter)mat or pat."Aberration: Reciprocal translocationNegative band
- Simopoulou M, Harper J C, Fragouli E, Mantzouratou A, Speyer B E, Serhal P, Ranieri D M, Doshi A, Henderson J, Rodeck C H, Delhanty J D A.: Preimplantation genetic diagnosis of chromosome abnormalities: implications from the outcome for couples with chromosomal rearrangements. Prenat. Diag 23:652-662, 2003. [PubMed: 12913872]Case F=46,XX,ins(7)(p22q32q31.1)Normal live birth.Aberration: Direct insertions within a chromosomeIndex Terms: PGD
- Stetten 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. 756.46,XY,t(7;15)(p22;q24)mat.Aberration: Reciprocal translocationNegative band
- Styles S M, Popkin J 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 Nos. 766 to 768.46,XY,t(7;19)(p22;q12)mat.Aberration: Reciprocal translocationNegative band
- Subrt I: Reciprocal translocation with special reference to reproductive failure. Hum. Genet. 55:303-307, 1980. [PubMed: 7203462]46,der(7)t(7;20)(pter;q11)pat;der inv(X)(pq)mat.&46,X,inv(X)(pq).Case 8.46,XY,t(7;20)(pter;q11).Aberration: Simple translocationNegative band
- Sutherland G R, Carter R F, Morris L L: Partial and complete trisomy 9: delineation of a trisomy 9 syndrome. Hum. Genet. 32:133-140, 1976. [PubMed: 1270071]Case I in this report.46,XX,t(7;9)(p22;q32).&"46,XX,t(7;9)(7qter -> 7p22::9q32 -> 9qter;9pter -> 9q32::7p22 -> 7pter)."&"47,XX,+der(9)t(7;9)(p22;q32)mat."Case II in this report.47,XX,+9.&A review of clinical finding in partial trisomy 9 cases is given in this report. The features are abnormalities of the cardiovascular and urinogenital systems, cranial suture anomalies, dislocation of the hips and knees and early death.Aberration: Reciprocal translocationIndex Terms: Congenital heart defects (cardiovascular anomalies),Dislocation ... multiple,Hip(s) ... dislocation (coxa vara),Knee ... dislocation ofNegative band
- Tolksdorf M, Kunze J, Gross-Selbeck G, Sperling K, Wegner R D, Wieczorek V, Vogel M: Familial trisomy 9p and spinal muscular atrophy: Clinical, cytogenetic and embryological findings. Europ. J. Ped. 126:13-27, 1977. [PubMed: 902660]46,XX,t(7;9)(p22;p13).Case U. M. (261267) in this report.Died on 150271 at age 3 years 2 months.&"46,XX,-7,+der(7),t(7;9)(p22;p13)mat."&"46,XX,-7,+der(7),t(7;9)(7qter -> 7p22::9p13 -> 9pter)mat."Aberration: Simple translocationIndex Terms: Muscular atrophy ... spinalNegative band
- Tsukamoto H, Sakai N, Taniike M, Nakatsukasa M, Yoshiwara W, Sakamoto H, Fujimura H, Inui K, Okada S: Case of ring chromosome 7: the first report of neuropathological findings. AJMG 46:632-635, 1993. [PubMed: 8362903]46,XY,r(7)(p22q36)de novo.The patient died at the age of 20 months; and had severe MR, growth failure, microcephaly, cleft lip and palate, cafe-au-lait spots, nevus flammeus, and genital abnormalities.On autopsy he had fusion of the anterior cerebral hemispheres, accompanied by agenesis of olfactory bulbs and tracts. Heterotopic Purkinje cell clusters in the cerebellar white matter, absence of pigmentation within the brainstem pigmented neurons, and severe hypomyelination in the whole brain were noted.Aberration: Ring chromosomeIndex Terms: Purkinje cell,MicrocephalyNegative band
- Verma R S, Conte R A, Pitter J H, Luke S: Pericentric inversion of chromosome 7 (inv(7)(p22q11.2)) and ring chromosome 8 (r(8)(p23q24.3)) in a girl with minor anomalies. J. Med. Genet. 29:66-67, 1992. [PMC free article: PMC1015827] [PubMed: 1552550]46,XX,inv(7)(p22q11.2)de novo,r(8)(p23q24.3)de novo.Patient was a 13 year old girl with MCA/MR.Aberration: Inversion pericentricNegative band
- Wajntal A, Gonzalez C H, Koiffmann C P, de Souza D H: "Brief cytogenetic report on maternal translocation t(7;9)(p22;p13): two sibs with duplication 9p and one sib with the balanced translocation." AJMG 20:265-269, 1985. [PubMed: 3976719]46,XX,t(7;9)(p22;p13).Patient 1, S. V. M.46,XX,-7,+der(7)t(7;9)(7qter -> 7p22::9p13 -> 9pter)mat.Patient 2, J. M.46,XY,-7,+der(7)t(7;9)(p22;p13)mat.Patient S. C. M.46,XX,der(7)der(9)t(7;9)(p22;p13)mat.Aberration: Simple translocationNegative band
- Walter S, Sandig K, Hinkel G K, Mitulla B, Ounap K, Sims G, Sitska M, Utermann B, Viertel P, Kalscheuer V, Bartsch O.: Subtelomeric FISH in 50 children with mental retardation and minor anomalies, identified by a checklist, detects 10 rearrangements including a de novo balanced translocation of chromosomes 17p13.3 and 20q13.33. AJMG DOI=10.1002/ajmg.a.30160; 128A:364-373, 2004. [PubMed: 15264281]Patient 1=46,XX.ish der(7)inv(7)(p22q36.3)(D7S427-)mat.,Mother=46,XX.ish inv(7)(p22q36.3)(D7S427 mv,yac965c12/D7S550 mv,yac965c12/D7S550 mv,yac855a6/D7S481 st).Trisomy 7p (0.3-5.8 Mb) and monosomy 7q (>3.6).Aberration: PI,REChromosomal Aneuploidy: 7p+;7q-
- 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 Henry Ford Hospital, Detroit.46,XX,t(7;16)(p22;q24).MCA, including duodenal atresia and situs inversus, patent ductus arteriosus, abnormal carotid artery origin, absent lung lobulation, and annular pancreas.Aberration: Reciprocal translocationIndex Terms: Duodenal atresia,Annular pancreas,Situs inversus,Patent ductus arteriosusNegative band
- 07p220 - Chromosomal Variation in Man07p220 - Chromosomal Variation in Man
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