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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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Incontinentia Pigmenti

  • Cantu E S, Thomas I T, Frias J L: Unusual cytogenetic mosaicism involving chromosome 14 abnormalities in a child with an MR/MCA syndrome and abnormal pigmentation. Clin. Genet. 36:189-195, 1989. [PubMed: 2676269]
    Patient T.F.
    46,XX,-14,+i(14)(p11),21s+/ 46,XX,r(14)(p11q32),21s+/ 45,XX,-14,21s+/ 46,XX,21s+.
    The 8 year old patient had microcephaly, severely mentally retarded, and extensive pigmentary anomaly resembling IP.
    MIM#: 308300
  • Cantu J M, del Castillo V, Jimenez M, Ruiz-Barquin E: Chromosomal instability in incontinentia pigmenti. Ann. Genet. 16:117-119, 1973. [PubMed: 4541903]
  • de Grouchy J, Bonnette J, Brussieux J, Roidot M, Begin P: Cassures chromosomiques dans l''incontinentia pigmenti. Etude d''une famille. Ann. Genet. 15:61, 1972. [PubMed: 4624698]
  • Devriendt K, Matthijs G, Fryns J-P, Ballegeer V.: Second trimester miscarriage of a male fetus with Incontinentia pigmenti. AJMG 80:298-299, 1998. [PubMed: 9843060]
  • Emerit I, Levy A, Vaillaud J C, Vissian L: Chromosomal breakages in Incontinentia pigmenti. Ann. Genet. 20:56-58, 1977. [PubMed: 302676]
  • Hecht F, Hecht B K: The half chromatid mutation model and bidirectional mutation in Incontinentia pigmenti. Clin. Genet. 24:177-179, 1983. [PubMed: 6627720]
  • Kelly T E, Rary J M, Young L: Incontinentia pigmenti: a chromosomal breakage syndrome. J. Hered. 67:171-172, 1976. [PubMed: 939916]
    Cases K.B. and M.B. in this report.
  • Langenbeck U: Transmission of incontinenetia pigmenti from mother to son is consistent with a half chromatid back-mutation (reversion) model. Clin. Genet. 22:290-291, 1982. [PubMed: 6295666]
  • Parcheta B, Skawinski W, Wisniewski W, Piontek E, Ryzko J: Clinical features and computer-aided analysis of chromosome aberration in a case with Incontinentia Pigmenti. Klin. Pad. 199:32-36, 1987. [PubMed: 3550261]
    A two year old female patient is described in detail.
    46,XX,der del(15)(p12)mat.
    Skin lesions, neurological and ophthalmological abnormalities are described.
    15p- is a known chromosomal polymorphism.
    The patient and her mother, a normal healthy person, were found to have the marker chromosome.
    MIM#: 308300
  • Scheuerle A E.: Male cases of incontinentia pigmenti: case report and review. AJMG 77:201-218, 1998. [PubMed: 9605587]
  • Shotts N, Emery A E H: Bloch-Sulzberger syndrome (Incontinentia pigmenti). J. Med. Genet. 3:148-152, 1966. [PMC free article: PMC1012920] [PubMed: 4960353]
  • Sommer A, Liu P H: Incontinentia pigmenti in a father and his daughter. AJMG 17:655-659, 1984. [PubMed: 6711617]
  • The International IP consortium: Survival of male patients with Incontinentia pigmenti carrying a lethal mutation can be explained by somatic mosaicism or Klinefelter syndrome. AJHG 69:1210-1217, 2001. [PMC free article: PMC1235532] [PubMed: 11673821]
    Patient 1 (XL409-05, US)
    47,XXY by FISH, the extra X was paternal.
    MIM#: 308310
    Index Terms: Bloch-Sulzberger syndrome
Copyright © 2011-2013, Digamber Borgaonkar.
Bookshelf ID: NBK107116
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