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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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  • Akahoshi K, Spritz R A, Fukai K, Mitsui N, Matsushima K, Ohashi H.: Mosaic supernumerary inv dup(15) chromosome with four copies of the P gene in a boy with pigmentary dysplasia. AJMG DOI=10.1002/ajmg.a.20580; 126A:290-292, 2003 and 2004. [PubMed: 15054844]
    47,XY,+idic(15)(pter->q14::q14->pter)[38]/46,XY[12].ish dic(15)(D15Z1++,SNRPN++++,P++++).
    The patient was a 10 year old Japanese boy with severe psychomotor retardation and epilepsy. He had mosaic patterns of skin hyperpigmentation.
    Aberration: IC,DI
    MIM#: 203200
    Chromosomal Aneuploidy: 15q+
    Index Terms: Pigmentary dysplasia,OCA2
  • Boue A, Gallano P: A collaborative study of the segregation of inherited chromosome structural rearrangements in 1356 prenatal diagnoses. Prenat. Diag. 4:45-67, 1984. [PubMed: 6463033]
    Aberration: Reciprocal translocation
    Positive band
  • Herr H M, Scott C I, Horton S J: De novo interstitial direct duplication of 15q: 46,XY,dir dup(15)(pter to q24::q14 to q21.1::q24 to qter). J. Med. Genet. 20:473-475, 1983. [PMC free article: PMC1049189] [PubMed: 6655678]
    Aberration: Duplication
    Positive band
  • Luke S, Verma R S, Giridharan R, Conte R A, Macera M J: Two Prader-Willi/Angelman syndrome loci present in an isodicentric marker chromosome. AJMG 51:232-233, 1994. [PubMed: 7521122]
    Patient was 2 year-old Chinese American girl, FK:
    47,XX,+idic(15)(pter -> q14::q14 -> pter).
    The patient does not exhibit signs of PW/Angelman syndromes but has developmental delay, hypotonia, microcephaly, failure to thrive, and cognitive delay.
    Alphoid probe (D15Z1) and Prader-Willi/Angelman cosmid probes (D15S11) were used to demonstrate a tetrasomic dose.
    Aberration: IC,DI
    Chromosomal Aneuploidy: 15q+
    Index Terms: Prader-Willi syndrome,Angelman
    Positive band
  • Matsumura M, Kubota T, Hidaka E, Wakui K, Kadowaki S, Ueta I, Shimuzu T, Ueno I, Yamauchi K, Herzing L B, Nurmi E L, Sutcliffe J S, Fukushima Y, Katsuyama T.: ''Severe'' Prader-Willi syndrome with a large deletion of chromosome 15 due to an unbalanced t(15,22)(q14;q11.2) translocation. Clin. Genet. 63:79-81, 2003. [PubMed: 12519378]
    Aberration: ST,ID
    MIM#: 176270
    Chromosomal Aneuploidy: 15q-
  • Mattei M G, Mattei J F, Vidal I, Giraud F: Advantages of silver staining in seven rearrangements of acrocentric chromosomes, excluding Robertsonian translocations. Hum. Genet. 54:365-370, 1980. [PubMed: 6156888]
    Positive band
  • Pfeiffer R A, Tschech L, Irle U, Wundisch G F: Chromosome aberrations with Prader-Willi-Labhart syndrome - critical overview, documented by four unusual cases. Klin. Pad. 199:329-335, 1987. [PubMed: 3316824]
    Patient S. S. 820925.
    45,XX,-15,-20,+dert(15;20)(20qter -> 20p13::15q14 -> 15qter).
    Aberration: Simple translocation
    MIM#: 176270
    Index Terms: Prader-Willi ... Critical Region (PWCR)
    Positive band
  • Shibuya Y, Tonoki H, Kajii N, Niikawa N: Identification of a marker chromosome as inv dup(15) by molecular analysis. Clin. Genet. 40:233-236, 1991. [PubMed: 1685358]
    47,XY,+inv dup (15)(pter -> q14::q14 -> pter)de novo.
    There were some dysmorphic features in this 15 year old patient.
    Gene dosage and RFLP studies of D15S9 proved that the patient was tetrasomic and the extra chromosome was of maternal origin.
    Aberration: Duplication
    Positive band
  • Sinet P M, Couturier J, Dutrillaux B, Poissonnier M, Raoul O, Rethore M O, Allard D, Lejeune J, Jerome H: Trisomie 21 et superoxyde dismutase 1. Exp. Cell Res. 97:47-55, 1976. [PubMed: 1245197]
    46,XY,-21,+der(15)t(15;21)(q14;q221). The SOD-1 gene locus is very likely localized in sub-band 21q221 and this band in trisomic state is responsible for a great part of the clinical features of trisomy 21.
    Aberration: Robertsonian translocations
    Positive band
  • Veenema H, Beverstock G C, Zvelebil-Tarasevitch N, Doorn J L, van Parys J A P, Kamp J J P v d: Duplication in the proximal portion of the long arm of chromosome 15, in a girl without phenotypic features of the Prader-Willi syndrome. Clin. Genet. 26:65-68, 1984. [PubMed: 6467659]
    Aberration: Duplication
    Index Terms: Prader-Willi ... Critical Region (PWCR)
    Positive band
  • Windpassinger C, Petek E, Wagner K, Langmann A, Buiting K, Kroisel P M.: Molecular characterization of a unique de novo 15q deletion associated with Prader-Willi syndrome and central visual impairment. Clin. Genet. 63:297-302, 2003. [PubMed: 12702163]
    45,XY,-15,der(3)t(3;15)(qter;q14)de novo
    The proband was 2 years old.
    Aberration: Simple translocation
    MIM#: 176270
    Chromosomal Aneuploidy: 15q-
    Index Terms: Prader-Willi syndrome
Copyright © 2011-2013, Digamber Borgaonkar.
Bookshelf ID: NBK106471


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