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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- Anderlid B-M, Sahlen S, Schoumans J, Holmberg E, Ahsgren I, Mortier G, Speleman F, Blennow E.: Detailed characterization of 12 supernumerary ring chromosomes using micro-FISH and search for uniparental disomy. AJMG 99:223-233, 2001. [PubMed: 11241494]Case A:The ring was present in 30% of cells in lymphocytes.,r(1)(p10p13)de novo.The patient was 13 years old with MR and dysmorphic features.Aberration: Ring chromosomeNo band
- Bailey S M, Meyne J, Cornforth M N, McConnell T S, Goodwin E H.: A new method for detecting pericentric inversions using COD-FISH. Cytogenet. Cell Genet. 75:248-253, 1996. [PubMed: 9067435]46,XY,del(1)(pter->q21.3::q23->qter),,inv(1)(pter->p13::q12->p13::q12->qter)The cell line is contributed by Dr. O. Alfi of Los Angeles.Aberration: PI,IDChromosomal Aneuploidy: 1q-No band
- Ballesta F, Fernandez E, Mila M: "Translocation t(1;8;15)maternelle et trisomie 8qter chez la fille conseil genetique." J. Genet. Hum. 28:361-366, 1980. [PubMed: 7463035]46,XX,t(1;8;15)(p13q25;q22;q25).&"46,XX,t(1;8;15)(1qter -> 1q25::1p13 -> 1q25::8q22 -> 8qter;8pter -> 8q22::15q24 -> 15qter;1pter -> 1p13::15q24 -> 15pter)."&"46,XX,-1,-15,+der(1)+der(15)t(1;8;15)(p13q25;q22;q24)mat."Aberration: Complex translocationNegative 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(1;3)(p13;p13); inv(1)(p13q21).Aberration: PI,RTNegative band
- Bourrouillou G, Dastugue N, Colombies P: Chromosome studies in 952 infertile males with a sperm count below 10 million/ml. Hum. Genet. 71:366-367, 1985. [PubMed: 4077053]46,XY,inv(1)(p13q25).Aberration: Inversion pericentricIndex Terms: Sterility ... maleNegative band
- Chen H, Tuck-Muller C M, Batista D A S, Wertelecki W.: Identification of supernumerary ring chromosome 1 mosaicism using fluorescence in situ hybridization. AJMG 56:219-223, 1995. [PubMed: 7625449]mos46,XY/47,XY,r(1)(p13q23).Patient was 15 years old with MCA.Aberration: Ring chromosomeNegative band
- Cohen O, Simonet M, Cans C, Mermet M A, Demongeot J, Amblard F, Jalbert P: Human reciprocal translocations: a new computer system for genetic counseling. Ann. Genet. 35:193-201, 1992. [PubMed: 1296514]Annex 4.t(1;3)(p13;p13).The RCPc (RCP counseling) is a knowledge base extracted from SCD (Structural chromosome data) containing information on 1376 families.Aberration: Reciprocal translocationIndex Terms: Genetic counseling,Reciprocal translocationsNegative band
- Dawson A J, Chudley A E.: Reply to correspodence from Shanske and Marion - "mosaic trisomy of a small r(1) with an abnormal phenotype". AJMG DOI=10.1002/ajmg.10491;110:414, 2002.
Shanske A L, Dowling P, Schmidt R, White B J, Russell B, Bogdanow A, Marion R W.: Simultaneous occurrence of two supernumerary autosomal ring chromosomes r(1) and r(16) in twins. J. Med. Genet. 36:625-628, 1999. [PMC free article: PMC1762981] [PubMed: 10465114]
Shanske A L, Marion R W.: Mosaic trisomy of a small r(1) with an abnormal phenotype. AJMG DOI=10.1002/ajmg.10482;110:413, 2002. [PubMed: 12116223]48,XX,+r(1)(p13q21),r(16)(p11q11).ish r(1)(D1Z5+,wcp1+),r(16)(D16Z2+,wcp16+).Twin A at 23 months showed microcephaly, growth and developmental delays, and mild dysmorphic features. Twin B has growth retardation, microcephaly, a bifid right thumb, and a left inguinal hernia.Aberration: Ring chromosome - Dignan P, Krouskop 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 Nos. 87, 88, and 89.46,XY,t(1;11)(p13;p11).&"46,XX and XY,t(1;11)(p13;p11)pat."Aberration: Reciprocal translocationNegative band
- Fitzgerald P H, Miethke P M, Caseley R T: Major karyotypic abnormality in a child born to a woman with untreated malignant melanoma. Clin. Genet. 12:155-161, 1977. [PubMed: 908168]Patient, 080175, died at 10 months. Parents had normal karyotypes. Suggestion has been made that an undetected common agent was involved in the aetiology of the mother''s tumor and the changes in the karyotype of the patient.46,XX,t(1;4;7;12;15)(p13;q21;p13;q22;q22).Aberration: Complex translocationIndex Terms: CancerNegative band
- Fryns J P, Van den Berghe H: Possible excess of mental handicap and congenital malformations in autosomal reciprocal translocations. Ann. Genet. 22:125-127, 1979. [PubMed: 316665]Family V.D.B. in this report.46,XY,t(1;19)(p13;p12).Aberration: Reciprocal translocationNegative band
- Garrett J H, Finley S C, Finley W H: Fetal loss and familial chromosome 1 translocation. Clin. Genet. 8:341-348, 1975. [PubMed: 1239343]Family B in this report.46,XX,t(1;12)(p13;q24).&"46,XY,der(1)der(12)t(1;12)(p13;q24)mat."&Two spontaneous abortions occurred in this family.Aberration: Simple translocationIndex Terms: Fetal wastage (Habitual recurrent, spontaneous abortion)Negative band
- Giraldo A, Silva E, Martinez I, Campos C, Guzman J: Pericentric inversion of chromosome 1 in three sterile brothers. Ann. Hum. Genet. 58:226-227, 1981. [PubMed: 7287009]46,XY,inv(1)(p13q25).Aberration: Inversion pericentricIndex Terms: Sterility ... maleNegative band
- Kohler A: Interstitial deletion in chromosome 1: assignment of the breakpoints. AJMG 47:1144, 1993. [PubMed: 8291536]46,XY,del(1)(p13p22.3)de novo.The neonate had MCA and developmental delay.Aberration: Interstitial deletionChromosomal Aneuploidy: 1p-Negative band
- Howard P N: Familial pericentric inversion of chromosome 1 with a note on reproductive risks. Hum. Genet. 45:123-125, 1978. [PubMed: 738717]46,XX,inv(1)(p13q23).&46,XX,inv(1)(p13q23)mat.Aberration: Inversion pericentricNegative band
- Jacobs P A, Buckton K E, Cunningham C, Newton M S: An analysis of the break points of structural rearrangements in man. J. Med. Genet. 11:50-64, 1974. [PMC free article: PMC1013088] [PubMed: 4134839]M. R. C. Registry No. K137-18-67 in this report.46,XY,t(1;13)(p13;q22).Aberration: Simple translocationNegative band
- Kaiser P: Pericentric inversions-Problems and significance for clinical genetics. Hum. Genet. 68:1-47, 1984. [PubMed: 6389316]Families Wa. 10/75 and Treu 92/77.inv(1)(p13q21).Aberration: Inversion pericentricNegative 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 10=46,XX,t(1;6;5)(p13;q14;p13).rev ish dim(6q14q14)de novoCase from a group of dysmorphic and MR subjects with normal or apparently balanced karyotypes.Aberration: Complex translocation
- Kubien E, Kleczkowska A: "Familial translocation t(1p-;21q+) associated with Down''s syndrome." Hum. Genet. 40:341-344, 1978. [PubMed: 147235]46,XX,-1,-21,+der(1),+der(21)t(1;21)(p13;q22).&"46,XX,-1,-21,+der(1),+der(21),t(1;21)(1qter -> 1p13::21q22 -> 21qter;21pter -> 21q22::1p13 -> 1pter)."Case W. Z. in this report.47,XY,-1,+der(1),+der(21),t(1;21)(p13;q22)mat.Aberration: Reciprocal translocationIndex Terms: Down syndrome (Trisomy 21)Negative band
- Kullmann F, Koch R, Feichtinger W, Giesen H, Schmid M, Grimm T.: Holt-Oram syndrome in combination with reciproke translocation, hypoplasia of the lung and cardiomyopathy. Klin. Padiat. 205:185-189, 1993. [PubMed: 8350593]Patient=46,XX,der(1)der(11)t(1;11)(p13;q13)pat.The patient was 2 years old with shortness of the humerus, aplasia of the radius, shortness of the ulna and a congenital anlage of four metacarpal bones in fixed malposition. In addition an atrial septal defect of the sinus venosus type with left-to-right shunting was present.The translocation was present in the paternal grandfather and an aunt.Aberration: Reciprocal translocationMIM#: 142900Index Terms: Holt-Oram syndrome
- Lee C S N, Ying K L, Bowen P: Position of the Duffy locus on chromosome 1 in relation to breakpoints for structural rearrangements. AJHG 26:93-102, 1974. [PMC free article: PMC1762559] [PubMed: 4204536]46,XX,inv(1)(p13q23).&46,XX,inv(1)(pter -> p13::q23 -> p13::q23 -> qter).Aberration: Inversion pericentricNegative band
- Lespinasse J, Bugge M, Rethore M O, North M O, Lundsteen C, Kirchhoff M.: De novo complex chromosome rearrangements (CCR) involving chromosome 1, 5, and 6 resulting in microdeletion for 6q14 in a female carrier with psychotic disorder. AJMG DOI=10.1002.ajmg.a.30064, 2004. [PubMed: 15214017]The 23-year-old proband was referred because of ovarian dysfunction.46,XX,t(1;6;5)(1p13;q14;5p13).ish der(1)t(1;16)(D1Z5+,WCP1+,WCP6+),der(6)t(5;6)(D5S23+,WCP5+,WCP6+),der(5)t(1;5)(WCP1+,WCP5+,D1Z5-).rev ish dim(6q14.1)de novo.Aberration: Complex translocationChromosomal Aneuploidy: 6q-Index Terms: CCR
- Levy B, Dunn T M, Kaffe S, Kardon N, Hirschhorn K.: Clinical applications of comparative genomic hybridization. Genet. in Med. 1:4-12, 1998. [PubMed: 11261428]Case 5 (referred by Elaine H. Zacakai, CHOP, PA):mos46,XY/47,XY+mar[50%].mar(wcp1+).rec ish enh(1)(p13q12)Patient was 15 years old with MCA including arthrogryposis.Index Terms: CGH
- Mounoud R L, Klein D, Bettschart W, Cabrol D: A clinical and cytogenetic investigation carried out in a special institution for mentally retarded patients. Preliminary results concerning 82 cases of oligophrenia. J. Genet. Hum. 24:297-335, 1976. [PubMed: 1022853]Case No. 3: M. Jean-Michel (000059), obs. 74-0011 in this report.46,XY,inv(1)(p13q21).&46,XY,inv(1)(pter -> p13::q21 -> p13::q21 -> qter).Aberration: Inversion pericentricIndex Terms: OligophreniaNegative band
- Muneer R S, Himes J, Rennert O M: Complex de novo rearrangement involving four chromosomes and ten break points with interstitial deletions and duplication. AJMG 31:33-37, 1988. [PubMed: 3066220]46,XX,-1,-5,-8,-9,+der(1)t(1;5;9)(5qter -> 5q31::1p13 -> 1q41::9qter),+der(5),t(5;9)(5pter -> 5q13::9p22 -> 9pter), +der(8),t(1;8)(8pter -> 8q12::1p13 -> 1pter),+der(9),t(1;9;9;5;8)(1qter -> 1q41::9q22 -> 9q34::9p13 -> 9q34::5q13 -> 5q22::8q12 -> 8qter).Patient was 27 years old, mentally retarded and with other anomalies.Karyotype is abnormal in the sense that there is deletion of 5q22 to 5q31, 9p13 to 9p22, and duplication of 9q22 to 9q34.Aberration: Complex translocationChromosomal Aneuploidy: 5q-,9p-,9q+Negative band
- Sachs E S, Jahoda M G J, van Hemel J O, Hoogeboom A J M, Sandkuyl L A: Chromosome studies of 500 couples with two or more abortions. Obst. Gynecol. 65:375-378, 1985. [PubMed: 3974963]46,XY,inv(1)(p13q11).Aberration: Inversion pericentricIndex Terms: Fetal wastage (Habitual recurrent, spontaneous abortion)Negative band
- Schwanitz G, Schmid P, Hagele C, Daffner H W, Grosse K P: Partial deletion of 1q, following a pericentric inversion, in a boy with multiple minor morphologic anomalies and mental retardation. Acta Genet. Med. Gemellol. 26:173-175, 1977. [PubMed: 596113]Patient Volker, M. (230672) in this report.46,XY,inv(1)(p13 q25)+del(q22 -> q25).&46,XY,inv(1)(pter -> p13::q22 -> p13::q25 -> qter).&The 3-3/4 year-old patient had multiple congenital anomalies including: prominent occiput, small chin, deep-seated and dysplastic ears, abnormal vortices of the hair, divided tip of the tongue, high palate, small finger and toe nails, bilateral inguinal hernia, undescended but normal-sized testes, hypotonic musculature and overextensible joints, retardation of ossification in the left hand by 6 - 12 months and slight osteoporosis.Aberration: Inversion pericentricIndex Terms: Chin ... small,Hand ... anomalies,Hernia ... inguinal,Hypotonia,Joints ... hyperextensibility,Occiput ... prominent,Ossification,Palate ... high arched,Testes ... undescended (cryptorchidism)Negative band
- Sherman S L, Iselius L, Gallano P, Buckton K E, Collyer S, DeMey R, Kristoffersson U, Lindsten J, Mikkelsen M, Morton N E, Nordensson I, Petersen M B, Wahlstrom J: Segregation analysis of balanced pericentric inversions in pedigree data. Clin. Genet. 30:87-94, 1986. [PubMed: 3757307]See comments by Stene, J, in Clin. Genet. 31:355-357, 1987.inv(1)(p13q21).Aberration: Inversion pericentricNegative band
- Syrett J E, Gray J E, Grace E, Bowser-Riley S M, Cook P J L, Robson E B, Teesdale P W: Two informative 1p translocation families. BD-OAS XI(No. 3):269-271, 1975.Subject MRC 1880 in this report.46,XY,t(1;16)(p13;q13).Aberration: Simple translocationNegative band
- Uehara S, Takabayashi T, Takeyama Y, Okamura K, Yajima A.: Familial pericentric inversion incidentally detected at prenatal diagnosis. Jpn. J. Hum. Genet. 40:259-263, 1995. [PubMed: 8527800]46,XY,der inv(1)(p13q23)pat.No problems in the family.Aberration: Inversion pericentricNegative 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]46,XY,t(1;2)(p13;q32).&"46,XY,t(1;4)(p13;q12)."Aberration: Reciprocal translocationNegative band
- Wenger S L, Steele M W, Boone L Y, Lenkey S G, Cummins J H, Chen X Q.: "Balanced" karyotypes in six abnormal offspring of balanced reciprocal translocation normal carrier parents. AJMG 55: 47-52, 1995. [PubMed: 7702096]It is commented that newborn infants inheriting a seemingly "balanced" karyotype from a normal parent with a balanced reciprocal translocation may still be at an increased risk of being malformed and/or developmentally delayed because of submicroscopic chromosomal imbalances. It is proposed that autosomal fragile sites are unstable areas which predispose to breaks and unequal crossing over near the fragile site breakpoints creating minute duplications and deletions.46,XY,t(1;15)(p13;q15).Short stature.Aberration: Reciprocal translocationNegative band
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