090000

9

Publication Details

  • Archidiacono N, Rocchi M, de Vonderweid V, Filippi G: t(9/22) with centric fission and NOR translocation leading to a case of pure 9p trisomy in the offspring. Hum. Genet. 40:325-331, 1978. [PubMed: 631851]
    Mostacci C, Ferraro M, Pelliccia F, Archidiacono N, Rocchi M, de Capoa A: Characterization of normal and rearranged human chromosomes by simultaneous Q- and R-banding with Chromomycin A3. Cytogenet. Cell Genet. 28:3-9, 1980. [PubMed: 6778662]
    Case 110577 in this report. Patient had unusual knee dislocation.
    46,XX,t(9;22)(cen;p11).&"46,XX,t(9;22)(9qter -> cen;22qter -> 22p11::9cen -> 9pter)."&"46,XY,-22,+der(22)t(9;22)(cen;p11)mat."
    Aberration: Simple translocation
    Index Terms: Dislocation ... knee,Knee ... dislocation of
    No band

  • Baccichetti C, Tenconi R: A new case of trisomy for the short arm of No. 9 chromosome. J. Med. Genet. 10:296-299, 1973. [PMC free article: PMC1013037] [PubMed: 4774540]
    46,XY,-15,+t(9p15q).
    Aberration: Whole-arm translocations
    No band

  • Battaglia E, Guanti G, Barsanti P, Petrinelli P: Chromosomal survey in 298 normal subjects and 1,253 cases of congenital disorders during 1966-1970. Acta Genet. Med. Gemellol. 20:123-173, 1971. [PubMed: 4255243]
    46,XY,t(9q12q),t(9p12p).
    Aberration: Whole-arm translocations
    Index Terms: Congenital heart defects (cardiovascular anomalies)
    No band

  • Bjorck E J, Anderlid B-M, Blennow E.: Maternal isodisomy of chromosome 9 with no impact on the phenotype in a woman with two isochromosomes: i(9p) and i(9q). AJMG 87:49-52, 1999. [PubMed: 10528247]
    The 34 year old patient had a history of spontaneous abortions in the family.
    46,XX,i(9)(p10),i(9)(q10)
    Aberration: IC,UPD

  • Buys C H C M, Gouw W L, Blenkers J A M, van Dalen C H: Heterogeneity of human chromosome 9 constitutive heterochromatin as revealed by sequential distamycin A/DAPI staining and C-banding. Hum. Genet. 57:28-30, 1981. [PubMed: 6167506]
    No band

  • Carr D H, Gedeon M M: Four familial translocations ascertained through spontaneous abortions. Hum. Genet. 31:93-96, 1976. [PubMed: 1248826]
    t(9;17q+).&Family studied extensively by Dr. I A Uchida.
    Aberration: Simple translocation
    Index Terms: Fetal wastage (Habitual recurrent, spontaneous abortion)
    No band

  • Centerwall W R, Beatty-De Sana J W: The trisomy 9p syndrome. Pediatrics 56:748-755, 1975. [PubMed: 1196731]
    Case C.S. in this report.
    46,XY,-14,+t(9p14q).
    Aberration: Whole-arm translocations
    No band

  • Chamla Y, Ruffie M: Production of C and T bands in human mitotic chromosomes after heat treatment. Hum. Genet. 34:213-216, 1976. [PubMed: 63441]
    This new technique (C and T bands) was used to identify the abnormal karyotype of 47,XX,-9,+i(9p)+r(9q). However, this interpretation is not entirely clear.
    Aberration: IC,RI
    No band

  • Coco R, Penchaszadeh V B: Frequency of chromosomal aberrations in 131 patients with multiple congenital malformations and mental retardation. J. Ped. 89:325 (Abstr.), 1976.
    46,XX,i(9q)/47,XX,i(9q)+(mar).
    Aberration: Isochromosome
    No band

  • Coman D, Bacic S, Boys A, Sparrow D B, Dunwoodie S L, Savarirayan R, Amor D J.: Spondylocostal dysostosis in a pregnancy complicated by confined placental mosaicism for tetrasomy 9p. AJMG Part A: 146A: 1972-1976, 2008. [PubMed: 18627039]
    47,XX,+i(9p)[3]/46,XX[42].
    Aberration: Isochromosome
    Chromosomal Aneuploidy: 9p+
    Index Terms: Spondylocostal dysostosis

  • Craig-Holmes A P, Moore F B, Shaw M W: Polymorphism of human C-band heterochromatin. I. Frequency of variants. AJHG 25:181-192, 1973. [PMC free article: PMC1762502] [PubMed: 4120239]
    Aberration: Marker chromosome
    No band

  • Cuoco C, Gimelli G, Pasquali F, Poloni L, Zuffardi O, Alicata P, Battaglino G, Bernardi F, Cerone R, Cotellessa M, Ghidoni A, Motta S: Duplication of the short arm of chromosome 9. Analysis of five cases. Hum. Genet. 61:3-7, 1982. [PubMed: 7129421]
    Case 1.
    47,XX,+i(9p).
    Aberration: Isochromosome
    No band

  • Dutly F, Balmer D, Baumer A, Binkert F, Schinzel A.: Isochromosomes 12p and 9p: parental origin and possible mechanisms of formation. Europ. J. Hum. Genet. 6:140-144, 1998. [PubMed: 9781058]
    Patients 4-6:
    47,XX or XY,+i(9p)de novo
    Cases 4 and 5 were prenatal and case 6 was 2 years old with MCA and MR.
    The extra chromosomes were of maternal origin. The breakpoints ''most likely were at 9q12''.
    Aberration: Isochromosome
    Chromosomal Aneuploidy: 9p+

  • Eggermann T, Schubert R, Engels H, Apacik C, Stengel-Rutkowski S, Haefliger C, Emiliani V, Ricagni C, Schwanitz G.: Formation of supernumerary euchromatic short arm isochromosomes: parent and cell stage of origin in new cases and review of the literature. Ann. Genet. 42:75-80, 1999. [PubMed: 10434120]
    i(9p)
    Aberration: Isochromosome
    Chromosomal Aneuploidy: 9p+

  • Eiberg H, Mohr J, Nielsen L S: delta-aminolevulinatedehydrase: synteny with ABO-Ak1-ORM (and assignment to chromosome 9). Clin. Genet. 23:150-154, 1983. [PubMed: 6839527]
    MIM#: 125270
    No band

  • Eydoux P, Junien C, Despoisse S, Chassevent J, Bibring C, Gregori C: Gene dosage effect for GALT in 9p trisomy and in 9p tetrasomy with an improved technique for GALT determination. Hum. Genet. 57:142-144, 1981. [PubMed: 6262213]
    Case 1.
    47,XY,+i(9p).
    Case 2.
    47,XX,+9p.
    Aberration: Isochromosome
    MIM#: 230400
    No band

  • Garcia-Cruz D, Vaca G, Ibarra B, Sanchez-Corona J, Ocampo-Campos R, Peregrina S, Moller M, Rivera H, Rivas F, Gonzalez-Angulo A, Cantu J M: Tetrasomy 9p: clinical aspects and enzymatic gene dosage expression. Ann. Genet. 25:237-242, 1982. [PubMed: 6985014]
    Patient was 13 9/12 years old with ''phenotypic appearance of 9p trisomy''.
    47,XX,+i(9p).
    Aberration: Isochromosome
    No band

  • Gardner L I, Mitter N, Coplan J, Kalinowski D P, Sanders K J: Isochromosome 9q in an infant exposed to ethanol prenatally. NEJM 312:1521,, 1985. [PubMed: 4039411]
    46,XX,-9,+i(9q).
    Aberration: Isochromosome
    No band

  • Gosden J R, Spowart G, Lawrie S S: Satellite DNA and cytological staining patterns in heterochromatic inversions of human chromosome 9. Hum. Genet. 58:276-278, 1981. [PubMed: 6173298]
    Aberration: Marker chromosome
    No band

  • Hansmann I: Structural variability of human chromosome 9 in relation to its evolution. Hum. Genet. 31:247-262, 1976. [PubMed: 955624]
    It is hypothesized that human chromosome 9 primarily was an acrocentric chromosome. During evolution it changed due -> a pericentric inversion and became submetacentric.
    No band

  • Herva R, Koivisto M: Trisomy 9p with i(9p) and t(9q18p). Hum. Genet. 50:237-240, 1979. [PubMed: 489006]
    Patient, 000776, a 2 year old girl with moderate mental retardation is presented here. The chromosomes of both parents were normal.
    46,XX,-9,-18,+t(9qter -> 9q12::18p11 -> 18qter),+i(9p)(pter -> cen -> pter).
    Aberration: Isochromosome
    No band

  • Hsu L Y F, Yu M T, Richkind K E, Van Dyke D L, Crandall B F, Saxe D F, Khodr G S, Mennuti M, Stetten G, Miller W A, Priest J H.: Incidence and significance of chromosome mosaicism involving an autosomal structural abnormality diagnosed prenatally through amniocentesis: a collaborative study. Prenat. Diag. 16: 1-28, 1996. [PubMed: 8821848]
    Case VIc-1 from Crandall B (18227).
    mos46,XX/47,XX,+i(9p)(20.5%).
    Abnormal female (35 weeks) was terminated and had facial, skeletal, and cardiac anomalies.
    Aberration: Isochromosome
    Chromosomal Aneuploidy: 9p+
    No band

  • Humphray S J, Oliver K, Hunt A R, Plumb R W, Loveland J E, Howe K L, Andrews T D, Searle S, Hunt S E, Scott C E, Jones M C, Ainscough R, Almeida J P, Ambrose K D, Ashwell R I S, Babbage A K, Babbage S, Bagguley C L, Bailey J, Banerjee R, Barker D J, Barlow K F, Bates K, Beasley H, Beasley O, Bird C P, Bray-Allen S, Brown A J, Brown J Y, Burford D, Burrill W, Burton J, Carder C, Carter N P, Chapman J C, Chen Y, Clarke G, Clark S Y, Clee C M, Clegg S, Collier R E, Corby N, Crosier M, Cummings A T, Davies J, Dhami P, Dunn M, Dutta I, Dyer L W, Earthrowl M E, Faulkner L, Fleming C J, Frankish A, Frankland J A, French L, Fricker D G, Garner P, Garnett J, Ghori J, Gilbert J G R, Glison C, Grafham D V, Gribble S, Griffiths C, Griffiths-Jones S, Grocock R, Guy J, Hall R E, Hammond S, Harley J L, Harrison E S I, Hart E A, Heath P D, Henderson C D, Hopkins B L, Howard P J, Howden P J, Huckle E, Johnson D, Joy A A, Kay M, Keenan S, Kershaw J K, Kimberley A M, King A, Knights A, Laird G K, Langford C, Lawlor S, Leongamornlert D A, Leversha M, lloyd C, Lloyd D M, Lovell J, Martin S, Mashreghi-Mohammadi M, Matthews L, McLaren S, McLay K E, McMurray A, Milne S, Nickerson T, Nisbett J, Nordsiek G, Pearce A V, Peck A I, Porter K M, Pandian R, Pelan S, Phillimore B, Povey S, Ramsey Y, Rand V, Scharfe M, Sehra H K, Shownkeen R, Sims S K, Skuce C D, Smith M, Steward C A, Swarbreck D, Sycamore N, Tester J, Thorpe A, Tracey A, Tromans A, Thomas D W, Wall M, Wallis J M, West A P, Whitehead S L, Willey D L, Williams S A, Wilming L, Wray P W, Young L, Ashurst J L, Coulson A, Blocker H, Durbin R, Sulston J E, Hubbard T, Jackson M J, Bentley D R, Beck S, Rogers J, Dunham I.: DNA sequence and analysis of human chromosome 9. Nature 429:369-374, 2004. [PMC free article: PMC2734081] [PubMed: 15164053]
    Index Terms: Chromosome 9 DNA sequence

  • Jalal S M, Kukolich M K, Garcia M, Benjamin T R, Day D W: Tetrasomy 9p: an emerging syndrome. Clin. Genet. 39:60-64, 1991. [PubMed: 1997218]
    47,XY,+dup(9p).
    Aberration: Isochromosome
    Chromosomal Aneuploidy: 9p+
    No band

  • Kaffe S, Hsu L Y F: Maternal serum alpha-fetoprotein screening and fetal chromosome anomalies: is lowering maternal age for amniocentesis preferable? AJMG 42:801-806, 1992. [PubMed: 1372793]
    Patient No. A-3.
    46,XX,t(9;19)de novo.
    Patient No. B-4.
    46,XY,t(9;18)pat.
    Aberration: Simple translocation
    Index Terms: MSAFP
    No band

  • 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]
    47,XY,+i(9p).
    Aberration: Isochromosome
    No band

  • Laurie D A, Hulten M A, Jones G H: Chiasma frequency and distribution in a sample of human males: chromosomes 1, 2, and 9. Cytogenet. Cell Genet. 31:153-166, 1981. [PubMed: 6173167]
    Laurie D A, Palmer R W, Hulten M A: Chiasma derived genetic lengths and recombination fractions: chromosomes 2 and 9. Ann. Hum. Genet. 46:233-244, 1982. [PubMed: 7125595]
    No band

  • Leisti J: Structural variation in human mitotic chromosomes. Ann. Acad. Sci. fenn. (Med.) Series A, IV, Biologica 179:1-69, 1971. [PubMed: 4261167]
    Case No. 13 in this report.
    46,XY,r(9).
    Aberration: Ring chromosome
    No band

  • Lloveras E, Perez C, Sole F, Zamora L, Lladonosa A, Espinet B, Silvestre E, Serra J, Vendrell T, Fernandez B, Salido M, Plaja A.: Two cases of tetrasomy 9p syndrome with tissue limited mosaicism. AJMG DOI=10.1002/ajmg.a.20447; 124A:402-406, 2003 and 2004. [PubMed: 14735590]
    Aberration: Isochromosome
    Chromosomal Aneuploidy: 9p+
    Index Terms: Tetrasomy 9p

  • McDowall A A, Blunt S, Berry A C, Fensom A H: Prenatal diagnosis of a case of tetrasomy 9p. Prenat. Diag. 9:809-811, 1989. [PubMed: 2616538]
    47,XY,+i(9p).
    The activity of enzyme galactose I-phosphate uridyl transferase was useful in confirming the cytogenetic data.
    Aberration: Isochromosome
    Chromosomal Aneuploidy: 9p+
    No band

  • Miller K, Arslan-Kirchner M.: Isochromosome-formation in chromosome 9. Ann. Genet. 37:78-81, 1994. [PubMed: 7985983]
    46,XX,-1,-9,+der(1)t(1;9)(pter;q13),+i(9p)/46,XX,-1,-9,+der(1)t(1;9)(pter;q13),+i(9)(pter-q13)de novo.
    The patient is mentally retarded and mildly dysmorphic and is now 13 5/12 years old.
    Aberration: IC,ST
    No band

  • Moedjono S J, Crandall B F, Sparkes R S: Tetrasomy 9p: confirmation by enzyme analysis. J. Med. Genet. 17:227-230, 1980. [PMC free article: PMC1048553] [PubMed: 7401135]
    Patient died at 2 months and had midline defects of the skull and face and extensive skeletal manifestations.
    47,XY,+i(9p).
    Aberration: Isochromosome
    Index Terms: Face ... anomalies
    No band

  • Muller-Navia J, Nebel A, Schleiermacher E.: Complete and precise characterization of marker chromosomes by application of microdissection in prenatal diagnosis. Hum. Genet. 96: 661-667, 1995. [PubMed: 8522323]
    9p(cen->p12).
    An elegant techinque is described: the microchromosomes are microdissected and amplified by degenerate oligonucleotide-primed PCR (DOP-PCR) and followed by FISH.
    No band

  • Nakamura Y, Sato E, Sakai K, Sakuma S, Hashimoto T, Sindou S: Abnormal chromosome 9 in a neonate program. Arch. Path. Lab. Med. 114:185-187, 1990. [PubMed: 2302035]
    Patient 1.
    46,XX,t(9;9)(9pter -> cen -> 9pter;9qter -> cen::9q13 -> 9qter),1qh+.
    Patient 2.
    47,XY,+del(9)(pter -> q11:).
    Patient 3.
    mos46,XY/47,XY,+dic(9)(pter -> cen -> q21::q21 -> cen -> pter).
    There was standard practice of karyotyping all admissions to the neonatal unit.
    Aberration: IC,TD,DI
    Chromosomal Aneuploidy: 9p+
    No band

  • Orye E, Verhaaren H, van Egmond H, Devloo-Blancquaert A: A new case of the trisomy 9p syndrome. Report of a patient with unusual chromosome findings 46,XX/47,XX,+i(9p) and a peculiar congenital heart defect. Clin. Genet. 7:134-143, 1975. [PubMed: 1132161]
    Case 270572 in this report.
    46,XX/47,XX,+i(9p).
    Aberration: Isochromosome
    Index Terms: Congenital heart defects (cardiovascular anomalies)
    No band

  • Pfeiffer R A, Trautmann U, Hirmer-Stoll R: Interstitial deletion of chromosome 9q with coexistence of the deleted segment as a ring chromosome. A case report. Ann. Genet. 34:247-251, 1991. [PubMed: 1809234]
    Patient CS(689510).
    47,XX,del(9)(cenq32),+r(9)(cen -> q32) or 47,XX,-9,+del(9)(9pter -> cen::q32 -> qter),+r(9)(cen -> q32).
    Patient was examined at 19 years of age because of anemia. She is mentally retarded and has other dysmorphic features.
    Aberration: ID,RI
    No band

  • Raimondi E, Ferretti L, Young B D, Sgaramella V, De Carli L: The origin of a morphologically unidentifiable human supernumerary minichromosome traced through sorting, molecular cloning, and in situ hybridisation. J. Med. Genet. 28:92-96, 1991. [PMC free article: PMC1016775] [PubMed: 2002493]
    mos46,XX/47,XX,+mar(9cen -> p1:)?/47,XX,+9.
    Patient at three years of age was severely malformed.
    Chromosomal Aneuploidy: 9+
    No band

  • Rao K W: Chromosome analysis in the clinical setting. Arch. Path. Lab. Med. 111:698-700, 1987. [PubMed: 3632281]
    A family described in this commentary where banding analysis demonstrated a chromosome translocation carrier state.
    46,XX,t(9;13).&"47,+der(13)t(9;13)mat."
    Aberration: Reciprocal translocation
    Chromosomal Aneuploidy: 13+,9q+
    No band

  • Rivera H, Gutierrez-Angulo M, Gonzalez-Garcia J R.: Chromosome 9qh inversions may not be true inversions. Hum. Genet. DOI=10.1007/s004399900072/105:181-182, 2001/1999. [PubMed: 10480378]
    Samonte R V, Conte R A, Ramesh K H, Verma R S.: Molecular cytogenetic characterization of breakpoints involving pericentric inversions of human chromosome 9. Hum. Genet. 98:576-580, 1996. [PubMed: 8882878]
    Verma R S.: A reply: pericentric inversion of chromosome 9qh are "real" but the mechanisms of their origin are highly complex. Hum. Genet. DOI=10.1007/s004399900086/105:183-184, 2001/1999.
    Aberration: Inversion pericentric
    No band

  • Rutten F J, Scheres J M J C, Hustinx T W J, ter Haar B G A: A presumptive tetrasomy for the short arm of chromosome 9. Humangenetik 25:163-170, 1974. [PubMed: 4141333]
    Patient H.A. (660203) in this report.
    47,XX,i(9p).
    Aberration: Isochromosome
    No band

  • Schaefer G B, Domek D B, Morgan M A, Muneer R S, Johnson S F: Tetrasomy of the short arm of chromosome 9: prenatal diagnosis and further delineation of the phenotype. AJMG 38:612-615, 1991. [PubMed: 2063906]
    47,XY,+i(9p).
    Aberration: Isochromosome
    Chromosomal Aneuploidy: 9p+
    No band

  • Schnedl W, Abraham R, Dann O, Geber G, Schweizer D: Preferential fluorescent staining of heterochromatic regions in human chromosomes 9, 15 and the Y by D287/170. Hum. Genet. 59:10-13, 1981. [PubMed: 10819015]
    No band

  • Schwanitz G, Zerres K, Gembruch U, Bald R, Hansmann M: Rate of chromosomal aberrations in prenatally detected hydrops fetalis and hygroma colli. Hum. Genet. 84:81-82, 1989. [PubMed: 2606481]
    47,XX,+der(10),t(9;10)mat.
    A case with hygroma colli and non-immune hydrops fetalis.
    Aberration: Simple translocation
    Index Terms: Hygroma colli,Hydrops
    No band

  • Slater H R, Ralph A, Daniel A, Worthington S, Roberts C. : A case of maternal uniparental disomy of chromosome 9 diagnosed prenatally and the related problem of residual trisomy. Prenat. Diag. 20:930-932, 2000. [PubMed: 11113900]
    Mos47,XX,+9/46,XX in amnio, fetal blood and neonatal blood.,cvs=47,XX,+9.
    One year follow-up documents minor facial dysmorphism and skeletal abnormalities.
    Aberration: Uniparental disomy
    No band

  • Smith G, McCaa A, Kelly T E: Trisomy 9p with an isochromosome of 9p. Hum. Genet. 42:93-97, 1978. [PubMed: 649175]
    A 18-1/2-year-old patient (050657) with moderately severe mental retardation is reported here.&46,XX,-7,-9,+t(7pter -> 7qter::9q11 -> 9qter),+iso(9p).
    Aberration: Isochromosome
    No band

  • Sparkes R S, Bass H N, Sparkes M C: 10q(q23 to qter) duplication: GOTs, HK1, and other gene markers. Hum. Genet. 42:267-270, 1978. [PubMed: 669709]
    46,XY,t(9;10).,46,XX,der(9)t(9;10)pat.
    Aberration: Simple translocation
    No band

  • Steinbach P, Benz R: Demonstration of gene dosage effects for AK3 and GALT in fibroblasts from a fetus with 9p trisomy. Hum. Genet. 63:290-291, 1983. [PubMed: 6303943]
    46,XX,18p+.&The 18p+ segment is identified as 9p.
    Aberration: Simple translocation
    No band

  • Tiranti V, Lamantea E, Uziel G, Zeviani M, Gasparini P, Marzella R, Rochhi M, Fried M.: Leigh syndrome transmitted by uniparental disomy of chromosome 9. J. Med. Genet. 36:927-928, 1999. [PMC free article: PMC1734287] [PubMed: 10636738]
    This ia report of a homozygous loss of function mutation of SURF-1 in two monozygotic LS (cox) feamle twins, owing to uniparental disomy of two almost identical maternal chromosomes 9.
    46,XX,upd(9)m
    Mother was 46 years old.
    Aberration: Uniparental disomy
    MIM#: 256000
    Index Terms: Leigh syndrome

  • Van Hove J, Kleczkowska A, De Bruyn M, Bekaert J, Fryns J P.: Tetrasomy 9p: prenatal diagnosis and fetopathological findings in a second trimester male fetus. Ann. Genet. 37:139-142, 1994. [PubMed: 7847795]
    Patient S.A.:
    47,XY,+i(9p)de novo.
    Routine echography at 19 weeks of pregnancy in a 31 year old showed MCA including hydrocephalus, bilateral cleft lip & palate, complex cardiac defect, bilateral hydronephrosis and complex limb malformations.
    Aberration: Isochromosome
    Chromosomal Aneuploidy: 9p+
    No band

  • Verma R S, Peakman D C, Robinson A, Lubs H A: Comparison of G-, Q-, and R-banding in 28 cases of chromosomal abnormalities. Cytogenet. Cell Genet. 16:479-486, 1976. [PubMed: 975933]
    Case No. 1875 in this report.
    46,XX,-9,-11,+t(9;11)(11qter->11p15::9q11->9qter),+i(9p).
    Aberration: ST,IC
    No 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,XX,t(9;19)(9p19p;9q19q).
    Aberration: Whole-arm translocations
    No band