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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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13q121

13q12.1
  • Genkova P, Toncheva D, Tzoneva M, Konstantinov I: Deletion 13q12.1 in a child with Coats disease. Acta Paed. Hung. 27:141-143, 1986. [PubMed: 3756013]
    46,XY,del(13)(q121).
    Patient L.S.H., was 3 years old, and seen in the Eye clinic.
    Aberration: Interstitial deletion
    MIM#: 158900
    Chromosomal Aneuploidy: 13q-
    Index Terms: Coats disease
    Negative band
  • Megarbane A, Souraty N, Theophile D, Vekemans M, Samaras L, Ghorayeb Z.: Trisomy for the distal segment of the short arm of chromosome 17 in a boy with mild mental retardation and some dysmorphic features. Ann. Genet. 40:55-59, 1997. [PubMed: 9150851]
    Patient P.E.:
    47,XY,+der(13),t(13;17)(q12.1;p13.1)mat.,Mother:46,XX,t(13;17)(q12.1;p13.1)
    At the age of 40 months, the child was evaluated for psychomotor retardation, speech delay and hypotonia.
    Aberration: Reciprocal translocation
    Chromosomal Aneuploidy: 17p+
  • Palmer C G, Miles J H, Howard-Peebles P N, Magenis R E, Patil S R, Friedman J M: Fetal karyotype following ascertainment of fetal anomalies by ultrasound. Prenat. Diag. 7:551-555, 1987. [PubMed: 3317386]
    Hydrocephalus was suspected at 30 weeks.
    mos46,XY/46,XY,del(13)(q12.1q12.3).
    Aberration: Interstitial deletion
    Chromosomal Aneuploidy: 13q-
    Index Terms: Hydrocephalus
    Negative band
  • Petit P, Devriendt K, Vermeesch J R, De Cock P, Fryns J P.: Unusual de novo t(13;15)(q12.1;p13) translocation leading to complex mosaicism including jumping translocation. Ann. Genet. 41:22-26, 1998. [PubMed: 9599647]
    Patient BM:
    45,XY,der(13)t(13;15)(q12.1;p13)[88%]/44,XY,der(13;15;15),(q12.1;p13;p13)[2%]/45,XY,-del(13)(pter->q12.1)[3%]/,45,XY,tan(13;15)(q12.1;q26.3)[2%]/46,XY,der(13)t(13;15),+del(13),(qter->q12.1)[3%]/46,XY,del(13)(pter->q12.1)[3%].
    The patient has been followed for number of years. He had neurosensory deafness, cataract and moderate MR. His bilateral catract was surgically corrected.
    Aberration: TR,UT
    Index Terms: Translocation, jumping
  • Tuerlings J H A M, de France H F, Hamers A, Hordijk R, Van Hemel J O, Hansson K, Hoovers J M N, Madan K, Van Der Blij-Philipsen M, Gerssen-Schoorl K B J, Kremer J A M, Smeets D F C M.: Chromosome studies in 1792 males prior to intra-cytoplasmic sperm injection: the Dutch experience. Europ. J. Hum. Genet. 6:194-200, 1998. [PubMed: 9781022]
    46,XY,der inv(13)(q12.1q14.1)
    Aberration: Inversion paracentric
    Index Terms: ICSI
  • Yan D, Ouyang X M, Angeli S I, Du L L, Liu X Z.: Paternal uniparental disomy of chromosome 13 causing homozygous 35delG mutation of the GJB2 gene and hearing loss. AJMG Part A: 143A: 385-386, 2007. [PubMed: 17256794]
    3 patients were identified.
    46,XY,UPD(13q12.1-q13)
    Aberration: Uniparental disomy
    Index Terms: GJB2,Hearing loss
Copyright © 2011-2013, Digamber Borgaonkar.
Bookshelf ID: NBK106938
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