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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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  • Bartsch O, Wuyts W, Van Hul W, Hecht J T, Meinecke P, Hogue D, Werner W, Zabel B, Hinkel G K, Powell C M, Shaffer L G, Willems P J.: Delineation of a contiguous gene syndrome with multiple exostoses, enlarged parietal foramina, craniofacial dysostosis, and mental retardation, caused by deletions on the short arm of chromosome 11. AJHG 58:734-742, 1996. [PMC free article: PMC1914683] [PubMed: 8644736]
    Six patients are discussed.

    Shaffer L G, Hecht J T, Ledbetter D H, Greenberg F: Familial interstitial deletion 11 (p11.12p12) associated with parietal foramina, brachymicrocephaly, and mental retardation. AJMG 45:581-583, 1993. [PubMed: 8456828]
    46,XX or XY,dir ins(13;11)(q14.1;p11.12p12).,46,XX or XY,del(11)(p11.12p12)mat.
    Proband was evaluated because of esotropia, skull defects, and hypothyroidism.
    Aberration: IX,ID
    MIM#: 168500
    Chromosomal Aneuploidy: 11p-
    Index Terms: Parietal foramina,Brachymicrocephaly
    Positive band
  • Chuang L, Wakui K, Sue W-C, Su M-H, Shaffer L G, Kuo P-L.: Interstitial deletion 11(p11.12p11.2) and analphoid marker formation results in inherited Potocki-Shaffer syndrome. AJMG DOI=10.1002/ajmg.a.30362; 133A:180-183, 2005. [PubMed: 15666301]
    46,XY,der del(11)(p11.12p11.2)mat.,Mother=mos 46,XX,del(11)[12/50]/47,XX,del(11),+mar(11)[38/50].
    The 14 month old boy was seen because of some dysmorphic features. This is a first report of PSS and also of of a new site of constitutional neocentromere formation.
    In the patient a maternal deletion for markers D11S554 and D11S1319.
    Aberration: Interstitial deletion
    MIM#: 601224
    Chromosomal Aneuploidy: 11p-
    Index Terms: Potocki-Shaffer syndrome
  • Yang-Feng T L, Finley S C, Finley W H, Francke U: High resolution cytogenetic evaluation of couples with recurring fetal wastage. Hum. Genet. 69:246-249, 1985. [PubMed: 3980017]
    Aberration: Inversion pericentric
    Index Terms: Fetal wastage (Habitual recurrent, spontaneous abortion)
    Positive band
Copyright © 2011-2013, Digamber Borgaonkar.
Bookshelf ID: NBK105801


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