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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 03p213 (Meschede et al, 1998).

  • Cooke L B, Richards H, Lunt P W, Burvill-Holmes L, Howell R T, McDermott A.: Duplication 2 (q11.2-q21): a previously unreported abnormality. J. Med. Genet. 32:825-826, 1995. [PMC free article: PMC1051712] [PubMed: 8558566]
    46,XY,dup(2)(q11.2q21)de novo.
    The patient was seven years old and was evaluated with dysmorphic features and marked behavioral abnormality.
    Aberration: Duplication
    Chromosomal Aneuploidy: 2q+
    Negative band
  • Giardino D, Finelli P, Russo S, Gottardi G, Rodeschini O, Atza M G, Natacci F, Larizza L.: Small familial supernumerary ring chromosome 2: FISH characterization and genotype-phenotype correlation. AJMG DOI=10.1002/ajmg.10537; 111:319-323, 2002. [PubMed: 12210331]
    Patient 1=46,XY/47,XY,der r(2)(q10q11.2)mat[80%].,Patient 2=46,XX/47,XX,r(2)(q10q11.2)[54%]
    The patient (1), 6 years old, was affected by mild MR, facial dysmorphisms, and psychotic illness and the mother (patient 2) with minor dysmorphic features.
    Aberration: Ring chromosome
    Chromosomal Aneuploidy: 2q+
    Index Terms: Supernumerary ring chromosome (SRC)
  • Glass I A, Stormer P, Oei P T S P, Hacking E, Cotter P D.: Trisomy 2q11.2->q21.1 resulting from an unbalanced insertion in two generations. J. Med. Genet. 35:319-322, 1998. [PMC free article: PMC1051282] [PubMed: 9598728]
    Patient 1, proband and her mother, patient 2:
    Both have mild mental retardation, short stature, dysmorphic features, insulin dependent diabetes mellitus, and a psychotic illness.
    Aberration: Direct insertion between two chromosomes
    Chromosomal Aneuploidy: 2q+
  • 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 IV-3 from Richkind K E (90027992).
    Normal male liveborn.
    46,XY in blood.
    Aberration: Terminal deletion
    Chromosomal Aneuploidy: 2q-
    Negative band
  • Kahkonen M, Leisti J, Thoden C J, Autio S: Frequency of rare fragile sites among mentally subnormal schoolchildren. Clin. Genet. 30:234-238, 1986. [PubMed: 3780040]
    Cases 2 and 3.
    Aberration: Fragile sites
    Negative band
  • Same entry as in 02p130 (Kozma et al, 1996).

  • Mu Y, Van Dyke D L, Weiss L, Olgac S: De novo direct tandem duplication of the proximal long arm of chromosome 2: 46,XX,dir dup(2)(q11.2q14.2). J. Med. Genet. 21:57-58, 1984. [PMC free article: PMC1049208] [PubMed: 6694186]
    Patient was 3 1/2 years old with multiple congenital anomalies.
    Aberration: Duplication
    Negative band
  • Reddy K S, Logan J J.: Intrachromosomal triplications: molecular cytogenetic and clinical studies. Clin. Genet. 58:134-141, 2000. [PubMed: 11005147]
    Case 3=de novo 46,XX,trp(2)(q11.2q21).ish trp(2)(wcp2+)
    Case 1 was a newborn with MCA.
    Chromosomal Aneuploidy: 2q+
    No band
  • Steichen-Gersdorf E, Gabner I, Superti-Furga A, Ullmann R, Stricker S, Klopocki E, Mundlos S.: Triangular tibia with fibular aplasia associated with a microdeletion on 2q11.2 encompassing LAF4. Clin. Genet. 74: 560-565, 2008. [PubMed: 18616733]
    The infant, with NS, died at the age of 4 months following a prolonged hypoxic episode. At the time of death, weight was 5925 g, length 59 cm.
    Aberration: Interstitial deletion
    MIM#: 163400
    Chromosomal Aneuploidy: 2q-
    Index Terms: Nievergelt syndrome (NS)
  • Teshima I, In, Daniel A, Hook E B, Wulf G: Risks of unbalanced progeny at amniocentesis to carriers of chromosome rearrangements: data from United States and Canadian laboratories. AJMG 33:14-53, 1989. [PubMed: 2750783]
    Observation No. 179.
    Aberration: Reciprocal translocation
    Negative band
  • Same entry as in 01p131 (Tupler R et al, 1992).

  • Same entry as in 02p210 (Voullaire L E and Webb G C, 1988).

  • Wang J, Reddy K S, Wang E, Halderman L, Morgan B L G, Lachman R S, Lin H J, Cornford M E.: Intrachromosomal triplication of 2q11.2-q21 in a severely malformed infant: case report and review of triplications and their possible mechanism. AJMG 82:312-317, 1999. [PubMed: 10051164]
    46,XX,trp(2)(q11.2q21).,46,XX,trp(2)(pter->q21::q11.2->q21::q21->q11.2::q11.2->q21::q21->qter). The middle repeat was inverted.
    The fetus with brain malformations, multicystic kidneys, absence of the right thumb, and a posterior cleft of palate was delivered and the baby expired shortly thereafter.
    Aberration: TRIP
    Chromosomal Aneuploidy: 2q+
  • Same entry as in 02p140 (Warburton D, 1991).

  • Yoshiura K-i, Machida J, Daak-Hirsch S, Patil S R, Ashworth L K, Hecht J T, Murray J C. : Characterization of a novel gene disrupted by a balanced chromosomal translocation t(2;19)(q11.2;q13.3) in a family with cleft lip and palate. Genomics 54:231-240, 1998. [PubMed: 9828125]
    A three generation family is reported.
    Individuals I-1, II-2, III-2, III-3, and III-4=46,XX or XY,t(2;19)(q11.2q13.3).
    Individuals I-1 and III-3, both males, are with cleft lip and palate.
    CLPTM1 gene, on chromosome 19, was cloned and was disrupted by the translocation.
    Aberration: Reciprocal translocation
    Index Terms: Cleft lip and palate,CLPTM1
Copyright © 2011-2013, Digamber Borgaonkar.
Bookshelf ID: NBK105745
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