18q223

18q22.3

Publication Details

  • Same entry as in 04q (Moncla et al, 2004).

  • Astbury C, Christ L A, Aughton D J, Cassidy S B, Fujimoto A, Pletcher B A, Schafer I A, Schwartz S.: Delineation of complex chromosomal rearrangements: evidence for increased complexity. Hum. Genet. DOI=10.1007/s00439-003-1079-1;114:448-457, 2004. [PubMed: 14767757]
    Astbury C, Christ L A, Aughton D J, Cassidy S B, Kumar A, Eichler E E, Schwartz S.: Detection of deletions in de novo "balanced" chromosome rearrangements: further evidence for their role in phenotypic abnormalities. Genet. in Med. 6:81-89, 2004. [PubMed: 15017330]
    Patient HB in Genet. in Med. report and 1 in Hum. Genet.:
    46,XX,ins(11;18)(q22.2;q12.3q22.1),del(18)(q12.2q12.3)de novo
    Developmental delay.
    The deletion spanned approximately 11 Mb with the loss of 18 genes. The proximal breakpoint in 18q12.2 was between BAC RP11-723J4, 2 signals, and BAC RP11-49I11, 1 signal. Distal breakpoint in 18q21.1 was between BAC RP11-701C7, 1 signal, and BAC RP11-767C4, 1 signal each at 18q21.1 and on 11q.
    Aberration: Direct insertion between two chromosomes
    Chromosomal Aneuploidy: 18q-

  • Feenstra I, Vissers L E L M, Orsel M, van Kessel Ad G, Brunner H G, Veltman J A, van Ravenswaaij-Arts C M A.: Genotype-phenotype mapping of chromosome 18q deletions by high-resolution array CGH: an update of the phenotypic map. AJMG Part A: 16: 1858-1867, 2007. [PubMed: 17632778]
    Veltman J A, Jonkers Y, Nuijten I, Janssen I, van der Vliet W, Huys E, Vermeesch J, Van Buggenhout G, Fryns J-P, Admiraal R, Terhal P, Lacombe D, van Kessel A G, Smeets D, Schoenmakers E F P M, van Ravenswaaij-Arts C M.: Definition of a critical region on chromosome 18 for congenital aural atresia by arrayCGH. AJHG 72:1578-1584, 2003. [PMC free article: PMC1180319] [PubMed: 12740760]
    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]
    20 patients, with narrow external auditory canals (NAC) or meatus atresia (MA) were studied.
    Patients 1-7=46,XX/XY,del(18)(q21.31).,Patients 8 and 9=46,XX,del(18)(q21.32).,Patient 10=46,XY,del(18)(q21.33).,Patients 11-14=46,XX/XY,del(18)(q22.1).,Patients 15, 16 & 20=46,XX/XY,del(18)(q22.3).,Patient 17=46,XX,del(18)(p11.21)+del(18)(q22.3).,Patient 18=46,XY,der(7)t(7;18)(q36.1;q23),,der(18)(pter->q22.3::p11.2->pter).,Patient 19=46,XY,del(18)(q21.3)[33%].
    The region 18q22.3-18q23 is considered as a candidate region for aural atresia.
    Aberration: TD,ID
    MIM#: 209770
    Chromosomal Aneuploidy: 18q-
    Index Terms: Congenital aural atresia (CAA),arrayCGH

  • Felding I, Kristoffersson U, Sjostrom H, Noren O: Contribution to the 18q- syndrome. A patient with del(18)(q22.3qter). Clin. Genet. 31:206-210, 1987. [PubMed: 3109789]
    Patient was 2 years old with typical features of the 18q- syndrome.
    46,XX,del(18)(q223 -> qter)de novo.
    Aberration: Terminal deletion
    Positive band

  • Gordon K, Siu V M, Sergovich F R, Jung J: 18q- mosaicism associated with Rett syndrome phenotype. AJMG 46:142-144, 1993. [PubMed: 8484399]
    mos46,XX/46,XX,del(18)(q22.3:)de novo.
    The 34 year old patient has midface hypoplasia, prominent mandible, and a narrow upper lip.
    Aberration: Terminal deletion
    MIM#: 312750
    Chromosomal Aneuploidy: 18q-
    Index Terms: Rett syndrome
    Positive band

  • Miller G, Mowrey P N, Hopper K D, Frankel C A, Ladda R L: Neurologic manifestations in 18q- syndrome. AJMG 37:128-132, 1990. [PubMed: 1700607]
    Strathdee G, Zackai E H, Shapiro R, Kamholz J, Overhauser J.: Analysis of clinical variation seen in patients with 18q terminal deletions. AJMG 59:476-483, 1995. [PubMed: 8585568]
    26 patients in all were analyzed.
    A 25 year old mother and her only 10 month old child were studied.
    46,XY,der del(18)(pter -> q22.3:)mat.
    Aberration: Terminal deletion
    Chromosomal Aneuploidy: 18q-
    Positive band