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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-.

Cover of Chromosomal Variation in Man

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

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  • Same entry as in 07q11.23 (Portera et al, 2005).
  • Brisset S, Kasakyan S, L''Hermine A C, Mairovitz V, Gautier E, Aubry M-C, Benkhalifa M, Tachdjian G. : De novo monosomy 9p24.3-pter and trisomy 17q24.3-qter characterised by microarray comparative genomic hybridisation in a fetus with an increased nuchal translucency. Prenat. Diag. DOI=10.1002/pd.1379; 26:206-213, 2006. [PubMed: 16450348]
    46,XX,add(9)(p24.3).ish 46,XX,der(9)t(9;17)(p24.3;q24.3)de novo
    A 29 year-old woman had amniocentesis, at 13 weeks because of increased NT (4.4) mm) detected at 12 weeks of gestation. Pregnancy terminated at 22 weeks.
    Aberration: Simple translocation
    Chromosomal Aneuploidy: 9p-;17q+
  • Repetto G M, Wagstaff J, Korf B R, Knoll J H M.: Complex familial rearrangement of chromosome 9p24.3 detected by FISH. AJMG 76:306-309, 1998. [PubMed: 9545094]
    46,XY,add(9)(p24).ish del(9)(D9S1858-)
    The infant had minor facial anomalies, pyloric stenosis, telecanthus and prominent ear lobes. The phenotypically normal mother also had the abnormal chromosme 9.
    No deletion was found at D9S1813 or D9S54.
    Aberration: ID,DU
    Chromosomal Aneuploidy: 9p-
  • Riegel M, Baumer A, Jamar M, Delbecque K, Herens C, Verloes A, Schinzel A.: Submicroscopic terminal deletions and duplications in retarded patients with unclassified malformation syndromes. Hum. Genet. 109:286-294, 2001. [PubMed: 11702209]
    Case 3=46,XX,dup(9)(p24.3)de novo.
    Aberration: Duplication
    Chromosomal Aneuploidy: 9p+
  • Zabel B, Baumann W A: Partial trisomy 12q. J. Med. Genet. 18:144-146, 1981. [PMC free article: PMC1048689] [PubMed: 7241532]
    46,XX,t(9;12)(p243;q243).&"46,XX,der(9)der(12)t(9;12)(p243;q243)mat."&"46,XY,-9+der(9)t(9;12)(9qter -> 9p243::12q243 -> 12qter)mat."&There were 2 miscarriages and one normal child in the family. The patient died after 2 1/2 months. Clinical features were brachycephaly with flattened occiput and peculiar facial features including a small broad-bridged nose with a downturned tip, hypertelorism, wide mouth with downturned corners and thin lips, slight micrognathia, high arched palate, and low set malformed ears.
    Aberration: Simple translocation
    Index Terms: Brachycephaly,Ears ... low-set malformed,Face ... anomalies,Hypertelorism,Lips ... thin,Micrognathia,Mouth ... downturned corners,Mouth ... wide,Occiput ... flat,Palate ... high arched
    Negative band
  • Zhang Z-F, Ruivenkamp C, Staaf J, Zhu H, Barbaro M, Petillo D, Khoo S K, Borg A, Fan Y-S, Schoumans J.: Detection of submicroscopic constitutional chromosome aberrations in clinical diagnostics: a validation of the practical performance of different array platforms. Europ. J. Hum. Genet. 16: 786-792, 2008. [PubMed: 18285835]
    Aberration: Duplication
    Chromosomal Aneuploidy: 9p+
Copyright © 2011-2013, Digamber Borgaonkar.
Bookshelf ID: NBK107061


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