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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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  • Alfi O S, Donnell G N, Derencsenyi A: The 9p- syndrome. BD-OAS XII(No. 5):157-160, 1976. [PubMed: 953217]
    The main characteristics are mental retardation, sociable personality, trigonocephaly, mongoloid slant of the eyes, wide flat nasal bridge, anteverted nostrils, long upper lip, short neck, long digits mostly secondary to long middle phalanges and predominance of whorls on fingers.
    Index Terms: Eye ... mongoloid eye slits,Fingers ... long,Lips ... long upper,Neck ... short,Ocular (optic) anomalies,Trigonocephaly
    No band
  • Breen C J, Barton L, Carey A, Dunlop A, Gkancy M, Hall K, Hegarty A M, Khokhar M T, Power M, Ryan K, Green A J, Stallings R L.: Applications of comparative genomic hybridisation in constitutional chromosome studies. J. Med. Genet. 36:511-517, 1999. [PMC free article: PMC1734415] [PubMed: 10424810]
    Case No. 11:
    The patient was studied because of developmental delay and dysmorphic features.
  • Centerwall W R: The distal 9p trisomy syndrome: A major clinical-cytogenetic entity. BD-OAS XIII(No. 3D):165-177,, 1977. [PubMed: 922135]
    No band
  • Same entry as in 02q300 (Cotlier et al, 1977).

  • Dinno N D, Silvey G L, Weisskopf B: "47,XY,t(9p+;11q+) in a male infant with multiple malformations." Clin. Genet. 6:125-131, 1974. [PubMed: 4430152]
    Patient E.C. in this report.
    47,XY,+t(9p+;11q+).,"Fluorescence microscopy revealed that the extra chromosome was aberrant. The short arms were those of chromosome number 9 and the long arms those of chromosome number 11..."
    Aberration: Simple translocation
    No band
  • Same entry as in 47,XXY (Dumars et al, 1975).

  • Ebbin A J, Wilson M G, Towner J W, Slaughter J P: Prenatal diagnosis of an inherited translocation between chromosomes No. 9 and 18. J. Med. Genet. 10:65-69, 1973. [PMC free article: PMC1012976] [PubMed: 4697854]
    Aberration: Simple translocation
    No band
  • Same entry as in 05q000 (Fredga and Hall, 1970).

  • Guanti G, Battaglia E, Petrinelli P, Rigillo N: A family with a balanced C/C translocation carrier and an unbalanced 47,XY,(Cq-)+ son. Acta Genet. Med. Gemellol. 20:245-255, 1971.
    Aberration: Simple translocation
    No band
  • Hoo J J, Parslow M I, Shaw R L, Veale A M O: Complex de novo rearrangement of chromosome 9 with clinical features of monosomy 9p syndrome. Clin. Genet. 16:151-155, 1979. [PubMed: 487636]
    A girl with complex rearrangement of chromosome 9 is reported. She showed the characteristic clinical features of monosomy 9p syndrome. It is shown that the region determining the phenotypic expression of monosomy 9p syndrome is seemingly located at band 9p24.
    Aberration: Complex translocation
    No band
  • Jacobsen P, Mikkelsen M, Rosleff F: A ring chromosome, diagnosed by quinacrine fluorescence as No. 9, in a mentally retarded girl. Clin. Genet. 4:434-441, 1973. [PubMed: 4127395]
    Aberration: Ring chromosome
    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.
    Case No. 22 in this report.
    Case No. 5 in this report.
    Aberration: TD,RI
    No band
  • Lindenbaum R H, Hulten M A, McDermott A, Seabright M: The prevalence of translocations in parents of children with regular trisomy 21: a possible interchromosomal effect? J. Med. Genet. 22:24-28, 1985. [PMC free article: PMC1049372] [PubMed: 3156995]
    t(9;17)(p13 or 21;p12 or 11).
    Aberration: Reciprocal translocation
    Index Terms: Down syndrome (Trisomy 21)
    No band
  • Lubs H A, Ruddle F H: Chromosome polymorphism in American Negro and White populations. Nature 233:134-136, 1971. [PubMed: 12058757]
    Aberration: PI,MA
    No band
  • Madan K, Bobrow M: Structural variation in chromosome no. 9. Ann. Genet. 17:81-86, 1974. [PubMed: 4139929]
    46,XX and XY,inv(9)(pq).
    Aberration: Inversion pericentric
    No band
  • Manouvrier-Hanu S, Turck D, Farriaux J P: Another case of ring chromosome 9 associated with gastroesophageal reflux. AJMG 32:558, 1989. [PubMed: 2774007]
    Patient had multiple congenital anomalies and was 3 months old.
    Aberration: Ring chromosome
    Index Terms: Gastroesophageal reflux
    No band
  • Manouvrier-Hanu S, Turck D, Gottrand F, Savary J B, Loeuille G A, Deminatti M M, Farriaux J P: Ring chromosome 9p. Report of a case and review of literature. Ann. Genet. 31:250-253, 1988. [PubMed: 3265311]
    Patient Aurelie D.
    Main signs are severe microcephaly, growth and psychomotor retardations, and heart malformations, infections were common, and increased level of leucocyte interferon.
    Aberration: Ring chromosome
    No band
  • Martin A O, Turk K B, Macintyre M N: An analysis of chromosome 9 inversions in four families. AJHG 26:58A, 1974.
    Aberration: Inversion pericentric
    No band
  • Muller H: Die pranatale Diagnostik von Erbkrankheiten in der ersten Schwanger-schaftshalft. Der Gynakologe 6:173-188, 1973.
    Aberration: Simple translocation
    No band
  • Schinzel A A: Trisomy 9p. A chromosome aberration with distinct radiologic findings. Radiology 130:125-133, 1979. [PubMed: 758640]
    Analysis of 33 cases disclosed consistent abnormalities in the hands, feet and pelvic bones. They were present only during the period of epiphyseal growth and occurred with similar frequency in the 21 familial and 12 nonfamilial cases. There was no correlation between the severity of osseous involvement and the amount of trisomic chromosome material.
    Index Terms: Bone anomalies,Foot ... anomalies,Hand ... anomalies
    No band
  • Sutherland G R, Eyre H: Two unusual G-band variants of the short arm of chromosome 9. Clin. Genet. 19:331-334, 1981. [PubMed: 7296923]
    Aberration: Marker chromosome
    No band
  • Same entry as in 0Yq100 (Tsenghi et al, 1976).

  • Uehara S, Akai Y, Takeyama Y, Takabayashi T, Okamura K, Yajima A: Pericentric inversion of chromosome 9 in prenatal diagnosis and infertility. Tohoku J. Exp. Med. 166:417-427, 1992. [PubMed: 1502688]
    25/1174 cases showed inv(9).
    46,XX or XY,inv(9).,46,XX,t(1;11),inv(9).,45,X,inv(9).,47,XY,+13,inv(9).
    Results indicate that inv(9) may often cause clinical problems in offspring of the carrier and infertility with unknown mechanism related to sex.
    Aberration: Inversion pericentric
    Index Terms: Infertility
    No band
  • Zdansky R, Andrle M, Buhler E M, Tsuchimoto T, Mayr W R, Rett A: Irregular phenotypic expression of ring chromosomes. Humangenetik 26:193-198, 1975. [PubMed: 1132877]
    Case 2 G.G. (Cult. No. 622, Vienna) in this report.
    Aberration: Ring chromosome
    No band
Copyright © 2011-2013, Digamber Borgaonkar.
Bookshelf ID: NBK106607
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