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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-.

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Chromosomal Variation in Man: A Catalog of Chromosomal Variants and Anomalies: Online NLM Version [Internet].

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  • Bass H N, Weber-Parisi F, Sparkes R S: "47,XX,+der(18),t(9;18)(p24;q21)mat: a distinct partial trisomy 18q- syndrome?" J. Med. Genet. 15:391-395, 1978. [PMC free article: PMC1013738] [PubMed: 739531]
    mos46,XX,t(9;18)(p24;q21)/47,XX,+der(18)t(9;18)(p24;q21).&"47,XX,+der(18)t(9;18)(p24;q21)mat."&The dysmorphic features were bilateral epicanthic folds, low-set, abnormal ears, low posterior hairline, clinodactyly of the 5th fingers, and broad great toes.
    Aberration: Simple translocation
    Index Terms: Clinodactyly,Ears ... low-set,Epicanthal folds,Hairline ... posterior, low,Toes ... great
    Negative band
  • Baysal B E, Potkin S G, Farr J E, Higgins M J, Korcz J, Gollin S M, James M R, Evans G A, Richard C W III.: Bipolar affective disorder partially cosegregates with a balanced t(9;11)(p24;q23.1) chromosomal translocation in a small pedigree. AJMG 81:81-91, 1998. [PubMed: 9514593]
    Willett-Brozick J E, Savul S A, Richey L E, Baysal B E.: Germ line insertion of mtDNA at the breakpoint junction of a reciprocal constitutional translocation. Hum. Genet. DOI=10.1007/s004390100564, 2001. [PubMed: 11511928]
    Willett-Brozick and Savul et al describe a novel 41-bp mtDNA insertion at the chromosome 9 breakpoint.
    A five generation pedigree with bipolar disorder and the translocation is presented.
    46,XX and XY,t(9;11)(p24;q23.1)
    Linkage marker analyses at the two breakpoints is being carried out.
    Aberration: Reciprocal translocation
    MIM#: 125480
    Index Terms: Bipolar affective disorder
  • Same entry as in 03q260,04q230,05p150,07p220,07q320,08p210 (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(9;10)(p24;q24); t(9;13)(p24;q22); t(9;18)(p24;q21).
    Aberration: Reciprocal translocation
    Negative band
  • Bourrouillou G, Rolland M O, Colombies P: Trisomie 18q2 secondaire. A une double translocation paternelle. J. Genet. Hum. 31:243-249, 1983. [PubMed: 6655464]
    Aberration: Complex translocation
    Negative band
  • Buckton K E, Barr D: Partial trisomy for long arm of chromosome 16. J. Med. Genet. 18:483, 1981. [PMC free article: PMC1048804] [PubMed: 7334514]
    46,XY,t(9;16)(p24;q13).&"46,XX,-9,+der(9)t(9;16)(9qter -> 9p24::16q13 -> 16qter)pat."&The proband, who died after 8 days, had multiple congenital anomalies.
    Aberration: Simple translocation
    Negative band
  • Caldwell R J, Brown J A, Young R B: A report of familial ring(9) chromosome. Med. Coll. Virginia Quarterly 13:179-182, 1977.
    46,XX,r(9)(p24q34).&46,XX,der r(9)(p24q34)mat.&The mother''s ring chromosome appears to be a de novo mutation with few, if any, phenotypic abnormalities. Whereas the daughter appears to have inherited the same ring chromosome and has short stature, microcephaly associated with mental retardation. It is rare that a ring chromosome is transmitted from a parent to an offspring.
    Aberration: Ring chromosome
    Index Terms: Microcephaly,Stature ... short (low)
    Negative band
  • Davalos I P, Rivas F, Ramos A L, Galaviz C, Sandoval L, Rivera H.: inv(9)(p24q13) in three sterile brothers. Ann. Genet. 43:51-54, 2000. [PubMed: 10818222]
    46,XX and XY,inv(9)(p24q13)
    Three brothers and two single sisters were carriers.
    Aberration: Inversion pericentric
    No band
  • de Vries B B A, White S M, Knight S J L, Regan R, Homfray T, Young I D, Super M, McKeown C, Splitt M, Quarrell O W J, Trainer A H, Niermeijer M F, Malcolm S, Flint J, Hurst J A, Winter R M.: Clinical studies on submicroscopic subtelomeric rearrangements: a checklist. J. Med. Genet. 38:145-150, 2001. [PMC free article: PMC1734836] [PubMed: 11238680]
    46,XY,del(9)(p24)de novo.,46,XX,der(9)t(9;16)(p24;q24)de novo.
    Aberration: TD,ST
    Chromosomal Aneuploidy: 9p-
    No band
  • Dowman C, Lockwood D, Allanson J E: "Familial translocation t(9;16)." J. Med. Genet. 26:525-528, 1989. [PMC free article: PMC1015677] [PubMed: 2671373]
    46,XX,t(9;16)(p24;q13).&"Patient:46,XX,-9,+der(9),t(9;16)(9qter -> 9p24::16q13 -> 16qter)mat."&"Uncle:46,XY,-16,+der(16),t(9;16)(16pter -> 16q13::9p24 -> 9pter)."
    Data are presented on the phenotypic characteristics of the aneuploidy conditions: 9p and 16q monosomy and trisomy.
    Aberration: Reciprocal translocation
    Chromosomal Aneuploidy: 9p- and +.,16q- and +.
    Negative band
  • Erratum AJMG 71:126, 1997.
    Shapira S K, Orr-Urtreger A, Gagos S, Shaffer L G.: Constitutional mosaicism for a chromosome 9 inversion resulting in recombinant aneusomy in an offspring. AJMG 69:360-364, 1997. [PubMed: 9098483]
    Father:mos46,XY,inv(9)(p24q34.1)25% in blood/46,XY(75%).,Proband:46,XX,rec(9)dup(9q)inv(9)(p24q34.1)pat.
    The patient was evaluated at the age of 6 months because of dysmorphic features and developmental delay.
    Aberration: PI,RE
    Chromosomal Aneuploidy: 9p-;9q+
  • Field B, Smith A, Sillence D: Malformation syndrome of chromosome 10q duplication and the Vater association. Ann. Genet. 26:31-33, 1983.
    46,XY,t(9;10)(p24;q22).&"46,XY,-9,+der(9)t(9;10)(9qter -> 9p24::10q22 -> 10qter)pat."
    Aberration: Simple translocation
    Negative band
  • Flejter W L, Fergestad J, Gorski J, Varvill T, Chandrasekharappa S.: A gene involed in XY sex reversal is located on chromosome 9, distal to marker D9S1779. AJHG 63:794-802, 1998. [PMC free article: PMC1377404] [PubMed: 9718346]
    McDonald M T, Flejter W, Sheldon S, Putzi M J, Gorski J L.: XY sex reversal and gonadal dysgenesis due to 9p24 monosomy. AJMG 73:321-326, 1997. [PubMed: 9415692]
    Patient, BB, a 10 month old girl, was being evaluated for a familial chromosome translocation.
    Patient=46,XY,der(9)t(8;9)(p21;p24)pat.,Father and an uncle=46,XY,t(8;9)(p21;p24).
    Female external genitalia, normal vagina and uterus, streak gonads, and bilateral gonadoblastoma was found.
    Paternal grandparents had normal karyotypes.
    Aberration: Reciprocal translocation
    MIM#: 273350
    Chromosomal Aneuploidy: 9p-
    Index Terms: Sex reversal,Gonadal dysgenesis
  • Fraisse J, Lauras B, Ooghe M J, Freycon F, Rethore M O: A case of ring 9 chromosome. Identification by heat denaturation. Ann. Genet. 17:175-180, 1974. [PubMed: 4548818]
    Case L (240173) in this report.
    Aberration: Ring chromosome
    Negative band
  • Fryns J P, Kleczkowska A, Kubien E, Petit P, Van den Berghe H: Cytogenetic survey in couples with recurrent fetal wastage. Hum. Genet. 65:336-354, 1984. [PubMed: 6693122]
    46,XX,t(9;18)(p24;q21).&"46,XY,-9,+der(9)t(9;18)(9qter -> 9p24::18q21 -> 18qter)mat."
    Aberration: Reciprocal translocation
    Index Terms: Fetal wastage (Habitual recurrent, spontaneous abortion)
    Negative band
  • Geiger C J, Salzano F M, Mattevi M S, Erdtmann B, da Rocha F J: Chromosome Variation and genetic counseling-20 years of experience in Brazil. Brazil. J. Genet. 10:581-591, 1987.
    Case 1767, M. R. F. was 32 years old.
    Aberration: Simple translocation
    Negative band
  • Guanti G: A new case of rearrangement of chromosome 15 associated with Prader Willi syndrome. Clin. Genet. 17:423-427, 1980. [PubMed: 7398114]
    A 3 1/2 year old patient.
    45,XY,-9,-15,+t(9;15)(p24;q11).&"45,XY,-9,-15,+t(9;15)(9qter -> 9p24::15q11 -> 15qter)."
    Aberration: Simple translocation
    Index Terms: Prader-Willi ... Critical Region (PWCR)
    Negative band
  • Guioli S, Schmitt K, Critcher R, Bouzyk M, Spurr N K, Ogata T, Hoo J J, Pinsky L, Gimelli G, Pasztor L, Goodfellow P N.: Molecular analysis of 9p deletions associated with XY sex reversal: refining the localization of a sex-determining gene to the tip of the chromosome. AJHG 63:905-908, 1998. [PMC free article: PMC1377405] [PubMed: 9718347]
    Five patients were studied.
    SV=46,XY,-9,+der(9)t(7;9)(q21.1;p24)mat.,RB=46,XY,-9,+der(9)t(2;9)(p11;p24)de novo.,B=46,XY,del(9)(p23.05)de novo.,TO=46,XY,del(9)(p23p24.3)de novo.,GG=46,XY,del(9)(p23)de novo.
    Aberration: Terminal deletion
    MIM#: 273350
    Chromosomal Aneuploidy: 9p-
  • Hansmann I, Keutel J: A subtelocentric chromosome 9 in a dysplastic 18-year-old boy with dissociated mental development. Humangenetik 30:287-289, 1975. [PubMed: 1218858]
    46,XY,inv(9)(p24q12).&46,XY,inv(9)(pter -> p24::q12 -> p24::q12 -> qter).
    Aberration: Inversion pericentric
    Negative band
  • Hess R O, Meisner L F: Apparent Prader-Willi phenotype in a woman with ring chromosome 9. AJMG(Suppl.) 3:133-138, 1987. [PubMed: 3130846]
    Patient was 25 years old with mental retardation and "socially inappropiate behavior".
    The phenotype was consistent with that of Prader-Willi syndrome.
    Aberration: Ring chromosome
    MIM#: 176270
    Negative band
  • Hoo J J: 12p trisomy: A syndrome? Ann. Genet. 19:261-263, 1976. [PubMed: 1087857]
    The 2-2/3-year-old patient in this report.
    46,XX,der(9)t(9;12)(p24;p11)mat.,The features of 12p trisomy syndrome appear to be psychomotor retardation, hypotomus, peculiar flat facies with prominent cheeks, epicanthic folds, broad eyebrows, broad and flat nasal bridge with short and narrow nose, anteverted nostrils large philtrum, broad and prominent lower lip, low-set ears with broad helix, prominent antihelix and deep concha, short neck, simian creases, bilateral genu valgum, increased space betweed first and second toes, hyporeflexia of knees and ankles and retarded bone age.
    Aberration: Reciprocal translocation
    Index Terms: Antihelix,Ears ... antihelix (prominent),Ears ... broad helix,Ears ... deep concha,Ears ... low-set,Epicanthal folds,Eyebrow ... broad,Facial dysmorphism,Genu valgum,Knee ... genu valgum,Lips ... broad lower,Neck ... short,Philtrum ... large,Toes ... widely spaced
    Negative band
  • Inouye T, Matsuda H, Shimura K, Hamazaki M, Kikuta I, Iinuma K, Nakagome Y: A ring chromosome 9 in an infant with malformations. Hum. Genet. 50:231-235, 1979. [PubMed: 489005]
    Patient died 9 days after birth with malformed upper extremities and congenital heart disease.
    Aberration: Ring chromosome
    Index Terms: Congenital heart defects (cardiovascular anomalies)
    Negative band
  • Junien C, Despoisse S, Turleau C, de Grouchy J, Bucher T, Fundele R: Assignment of phosphoglycerate mutase (PGAMA) to human chromosome 10. Regional mapping of GOT-1 and PGAMA to subbands 10q261 (or q253). Ann. Genet. 25:25-27, 1982. [PubMed: 6282177]
    Patient 1: Deletion 10q26.1 to 10qter. 10q26.2 and 10q26.3 were deleted (de novo). Case reported by Turleau et al, Hum. Genet. 47:233, 1979 and Junien et al, Ann. Genet. 22:50-52, 1979.
    Patient 2, was 30 months old, part 10q25 may be present also.
    46,XX,t(9;10)(p24;q26).&"46,XX,-9,+der(9)t(9;10)(9qter -> 9p24::10q26 -> 10qter)mat."
    Aberration: Simple translocation
    Negative band
  • Kelly T E: Personal communication, 1978.
    Miller J Q, Willson K, Wyandt H E, Jaramillo M A, McConnell T S: Familial partial 14 trisomy. J. Med. Genet. 16:60-65, 1979. [PMC free article: PMC1012783] [PubMed: 469889]
    Willson K, Miller J Q, Wilson W, Schott G: Familial partial 14 trisomy. J. Med. Genet. 18:158-159, 1981. [PMC free article: PMC1048696] [PubMed: 6787202]
    46,XX and XY,der(9)der(14)rcp(9;14)(p24;q21)mat.
    46,XX,rcp(9;14)(p24;q21).&"46,XX,rcp(9;14)(9qter -> 9p24::14q21 -> 14qter;14pter -> 14q21::9p24 -> 9pter)."
    Four patients JC, EC, DT and TC in this report.
    47,XX or XY,+der(14)rcp(9;14)(p24;q21)mat.&Nucleoside phosphorylase activity was measured in patient DT which supports the assignment of NP locus -> 14q13.
    Aberration: Reciprocal translocation
    Negative band
  • Knight S J L, Regan R, Nicod A, Horsley S W, Kearney L, Homfray T, Winter R M, Bolton P, Flint J.: Subtle chromosomal rearrangements in children with unexplained mental retardation. Lancet 354:1676-1681, 1999. [PubMed: 10568569]
    7.4% of children with moderate to severe MR and 0.5% of children with mild retardation were found to have these rearrangements. The estimated population prevalence of these rearrangements was 2.1/10,000 and they were familial in almost half the cases.
    46,XX,der(9)t(9;16)(p24;q24)de novo
    The size of 16q+ is estimated to be >36cM and maternal in origin.
    46,XY,del(9)(p24)de novo
    The deletion size is estimated to be 10.4-14.5cM and paternal in origin.
    Aberration: Terminal deletion
    Chromosomal Aneuploidy: 9p-
  • Kratzer P G, Golbus M S, Schonberg S A, Heilbron D C, Taylor R N: Cytogenetic evidence for enhanced selective miscarriage of trisomy 21 pregnancies with advancing maternal age. AJMG 44:657-663, 1992. [PubMed: 1481829]
    Aberration: Simple translocation
    Negative band
  • Lazjuk G I, Zolotukhina T V, Kirillova I A, Lurie I W, Novikova I, Abasheva G: Prenatal morphology of partial monosomy 18q. Zent. Bl. Gynakol. 109:126-129, 1987. [PubMed: 3577468]
    The mother was 22 years old.
    46,XX,t(9;18)(p24;q21).&"46,XY,der(18),t(9;18)(p24;q21)iedel(18)(q21 -> qter)mat."
    Aberration: Simple translocation
    Chromosomal Aneuploidy: 18q-
    Negative band
  • Lemire E G, Cardwell S.: Unusual phenotype in partial trisomy 14. AJMG 87:294-296, 1999. [PubMed: 10588832]
    Patient WC, at age 7 years, was referred for reevaluation of previous diagnosis of Williams syndrome.
    WC had minor facial anomalies, developmental delay, hyperphagia, and obesity.
    This was their seventh pregnancy: there were four first-trimester miscarriages and two healthy children. FISH analysis for Prader-Willi and Williams syndromes did not identify any deletion. Methylation studies also ruled out PWS.
    Aberration: Reciprocal translocation
    Chromosomal Aneuploidy: 9p+;14q+;
  • Leschot N J, Slater R M, Joenje H, Becker-Bloemkolk M J, de Nef J J: "SOD-A and chromosome 21. Conflicting findings in a familial translocation (9p24;21q214)." Hum. Genet. 57:220-223, 1981. [PubMed: 7228038]
    Mother:46,XX,t(9;21)(p24;q214).&"Case 1:46,XY,-9,+der(9)t(9;21)(9qter -> 9p24::21q214 -> 21qter)."&"Case 2:47,XX,+der(21)t(9;21)(21pter -> 21q214::9p24 -> 9pter)."
    Negative band
  • Lessick M L, Israel J, Wong P W K, Szego K: "Partial trisomy 16q secondary to a maternal 9;16 translocation." J. Med. Genet. 26:63-64, 1989. [PMC free article: PMC1015542] [PubMed: 2918530]
    Mother:46,XX,t(9;16)(p24;q21).&"46,XX,-9,+der(9)t(9;16)(9qter -> 9p24::16q21 -> 16qter)mat."
    Patient was a dysmorphic six month old, with psychomotor retardation.
    Aberration: Simple translocation
    Chromosomal Aneuploidy: 16q+
    Negative band
  • Mendez H M M, Paskulin G A, Breda D J: Proximal trisomy 14q: report of a case and review of the literature. Rev. Brasil Genet. 6:549-556, 1983.
    46,XX,t(9;14)(9qter -> 9p24::14q24 -> 14qter;14pter -> 14q24::9p24 -> 9pter).&"47,XX,+der(14),t(9;14)(p24;q24)mat."
    Patient died after 35 days, and had multiple congenital anomalies including iris coloboma.
    Aberration: Reciprocal translocation
    Index Terms: Coloboma
    Negative band
  • Nakajima S, Yanagisawa M, Kamoshita S, Nakagome Y: Mental retardation and congenital malformations associated with a ring chromosome 9. Hum. Genet. 32:289-293, 1976. [PubMed: 939548]
    A 35-month-old male (NIG 1985) was found to have a ring chromosome 9.
    46,XY,r(9)(p24q34).&46,XY,r(9)(p24 -> q34).&Clinical features are compatible to four other previous reports of ring chromosome 9.
    Aberration: Ring chromosome
    Negative band
  • O''Connor T A, Higgins R R: Trisomy 16p in a liveborn infant and review of trisomy 16p. AJMG 42:316-319, 1992. [PubMed: 1536169]
    46,XX,t(9;16)(p24;p13.1).&"46,XY,-9,+der(9)t(9;16)(9qter -> 9p24::16p13.1 -> 16pter)mat."
    The patient showed MCA.
    Aberration: Reciprocal translocation
    Chromosomal Aneuploidy: 16p+
    Negative band
  • Pratt N R, Bulugahapitiya D T D: Partial trisomy 12q: a clinically recognizable syndrome. Genetic risks associated with translocations of chromosome 12q. J. Med. Genet. 20:86-89, 1983. [PMC free article: PMC1049004] [PubMed: 6842562]
    46,XX,t(9;12)(p24;q21.2).&"46,XX,-9,+der(9)t(9;12)(9qter -> 9p24::12q212 -> 12qter)mat."&Proband died after 37 days.
    Aberration: Simple translocation
    Negative band
  • Purandare S M, Lee J, Hassed S, Steele M I, Blackett P R, Mulvihill J J, Li S.: Ring chromosome 9 [r(9)(p24q34)]: a report of two cases. AJMG 138A:229-235, 2005. [PubMed: 16158426]
    46,XX,r(9)(p24q34).ish r(9)(305J7-T7-,p16+,ABL+,D9S325-)[19]/46,XX,-9[1].,46,XY,r(9)(p24q34).ish r(9)(305J7-T7-,p16+,ABL+,D9S325-)[20].
    About 115 kb deletion at 9p end and 95 kb at 9q.
    Aberration: Ring chromosome
    Chromosomal Aneuploidy: 9p-;9q-
  • Rethore M O, Dutrillaux B, Baheux-Morlier G, Gerveaux J, Lejeune J: Monosomie pour les regions juxtacentromeriques d''un chromosome 21. Exp. Cell Res. 70:455-456, 1972. [PubMed: 5058917]
    Patient I.P. No. 9493 in this report.
    45,XX,-9,-21,+der(9)t(9;21)(p24;q221).&45,XX,-9,-21,+der(9)(9qter -> 9p24::21q221 -> 21qter).
    Aberration: Simple translocation
    Negative band
  • Rossi E, Piccini F, Zollino M, Neri G, Caselli D, Tenconi R, Castellan C, Carrozzo R, Danesino C, Zuffardi O, Ragusa A, Castiglia L, Galesi O, Greco D, Romano C, Pierluigi M, Perfumo C, Di Rocco M, Faravelli F, Bricarelli F D, Bonaglia M C, Bedeschi MF, Borgatti R.: Cryptic telomeric rearrangements in subjects with mental retardation associated with dysmorphism and congenital malformations. J. Med. Genet. 38:417-420, 2001. [PMC free article: PMC1734891] [PubMed: 11424927]
    Case 3=der(9p)t(9p;13q)mat.
    Case ascertained prenatally, positive family history, patient 1 month old at the time of telomere test with MCA.
    Monosomy 9p=27cM (762D7-;830F3+).
    Aberration: Reciprocal translocation
    Chromosomal Aneuploidy: 9p-;13q+
    No band
  • Schinzel A A, Hayashi K, Schmid W: Further delineation of the clinical picture of trisomy for the distal segment of chromosome 13. Report of three cases. Hum. Genet. 32:1-12, 1976. [PubMed: 1262020]
    Case 3 in this report.
    46,XY,-13,+t(13;13)(q14;p11).&"46,XY,-13,+t(13;13)(I13qter -> I13p11::II13q14 -> II13qter)."&A useful table listing the presence of clinical features in trisomies for the proximal and distal segments of chromosome 13 has been provided. Features commonly present in trisomy of proximal segment are moderately reduced birth weight, small mouth and small chin, scalp defects, clinodactyly of fifth fingers and an increase of nuclear projections in polymorphonuclear leukocytes. Features found more frequently in trisomy of distal segment are trigonocephaly, long and markedly curved eyelashes, stubby nose and increased distance between nose and upper lip, misshapen ears, with prominent antihelix which is curved in a sharp angle and very small or absent lobules and hexadactyly.
    Individual III-3, (case 1) in the pedigree.
    46,XX,-9,+der(9)t(9;13)(p24;q22)pat.&"46,XX,-9,+der(9)t(9;13)(9qter -> 9p24::13q22 -> 13qter)pat."
    Individual III-7, (case 2) in the pedigree was diagnosed on clinical grounds as having partial trisomy 13.
    Individuals II-4 and II-5 in the pedigree.
    Aberration: Simple translocation
    Index Terms: Antihelix,Chin ... small,Clinodactyly,Ears ... antihelix (prominent),Ears ... mishappen,Eye-lashes ... curved,Mouth ... small,Philtrum ... long,Scalp defects,Trigonocephaly
    Negative band
  • Sekhon G S, Kaufman R L: Centromeric suppression or two functional centromeres in a stable dicentric? AJHG 26:77A, 1974.
    45,XX or XY,-9,-11,+t(11;9)(p15;p24).,End to end fusion is hypothesized with inactivation or suppression of centromere of chromosome 9.
    Aberration: Terminal rearrangements
    Negative band
  • Sigurdardottir S, Goodman B K, Rutberg J, Thomas G H, Jabs E W, Geraghty M T.: Clinical, cytogenetic, and fluorescence in situ hybridization findings in two cases of "complete ring" syndrome. AJMG 87:384-390, 1999. [PubMed: 10594875]
    Case 2:
    45,XY,-9[5]/46,XY,r(9)(p24q34.3)[45].ish r(9)(9ptel+,9qtel+,AHT-).
    The 16 month old Jordanian patient was referred because of short stature.
    Aberration: Ring chromosome
  • Smith A, Evans W A, Woolnough H: Post-mortem studies on two patients with 1-2 band cytogenetic deletions: 10q26 to qter and r(9)(p24q34). Ann. Genet. 32:220-224, 1989. [PubMed: 2610488]
    Turner B, Jennings A N, den Dulk G M, Stapleton T: A self-perpetuating ring chromosome. Med. J. Austral. ii:56-59, 1962. [PubMed: 13923190]
    Case 2.
    Aberration: Ring chromosome
    Negative band
  • Stumm M, Wieacker P, Kessel-Weiner E, Theile U, Pascu F, Ottolenghi C.: Deletion of the DM-domain gene cluster in a fetus with ring chromosome 9 and sex reversal. Pediat. Path. Mol. Med. 19:415-423, 2000.
    Amintic fluid=mos45,XY,-9[11]/46,XY,r(9)(p24q34)[69].,Fetal blood by cordocentesis=46,XY,r(9).
    The 35 year old mother had amniocentesis because of her age, and the pregnancy was terminated.
    FISH analyses showed a very small deletion of the terminal region of 9p including the DM-domain gene (DMRT1, DMRT2) cluster.
    Aberration: Ring chromosome
    Index Terms: DM-domain gene cluster,sex reversal
    No band
  • Summitt R L: Personal communication, 1978.
    Aberration: Reciprocal translocation
    Negative band
  • Veltman J A, Schoenmakers E F P M, Eussen B H, Janssen I, Merkx G, van Cleef B, van Ravenswaaij C M, Brunner H G, Smeets D, van Kessel A G.: High-throughput analysis of subtelomeric chromosome rearrangements by use of array-based comparative genomic hybridization. AJHG 70:1269-1276, 2002. [PMC free article: PMC447601] [PubMed: 11951177]
    Case 14=46,XX,der(9)t(9;7)(p24;p22).
    Patient ascertained because of MCA.
    Loss of 9pter and gain of 7pter.
    Aberration: Simple translocation
    Chromosomal Aneuploidy: 9p-;7p+
  • Winsor E J T, Van Allen M I: "Familial marker chromosome due to 3:1 disjunction of t(9;15) in a grandparent." Prenat. Diag. 9:851-855, 1989. [PubMed: 2626410]
    46,XX,t(9;15)(p24;q11.2)&"46,XY,der t(9;15)(p24;q11.2)mat."
    The three generation family study revealed the origin of the familial marker chromosome. At 13 weeks the child was developing normally.
    Aberration: Simple translocation
    Index Terms: Marker chromosome
    Negative band
  • Wollenhaupt M, Palmer E A, Magenis E, Egan R A.: Optic disc Drusen associated with trisomy 15q. J. Amer. Assoc. Ped. Ophthal. Strab. 6:49-50, 2002. [PubMed: 11907479]
    46,XY,der(9)t(9;15)(9qter->9p24::15q24->15qter)pat.,Father and a brother=46,XY,t(9;15)(p24;q24).
    The patient was 9 years old. Ultrasound confirmed bilateral, asymmetric optic disc drusen.
    Aberration: Reciprocal translocation
    Chromosomal Aneuploidy: 9p-;15q+
    Index Terms: Optic disc Dreusen
Copyright © 2011-2013, Digamber Borgaonkar.
Bookshelf ID: NBK106836


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