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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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04q133

4q13.3
  • Chung L C Y, Debelle G, Roberts E, McKeown C.: Reviewing earlier diagnosis of chromosome. Arch. Dis. Childhood 72:375-376, 1995. [PMC free article: PMC1511228] [PubMed: 7763079]
    47,XX,+der(14)t(4;14)(14pter->14q21.2::4q13.3->4qter)mat.
    At age of 15 years the patient was functioning at a 6-9 months level. The anomalies were short stature, small head, low anterior hair line, disorganised hair growth, hypertelorism, broad nose, anteverted nares, small jaw, short philtrum, prominent eyes, full lips, prominent teeth, small hands with short fingers, proximally inserted thumbs, clinodactyly, interrupted single crease on the left hand, umbilical hernia, rocker bottom feet, upper limb hypertonia, and truncal hypotonia.
    Maternal aunt was also a carrier. Patient was ascertained because of her age of 15 years who was initially diagnosed as a case of trisomy 13 at birth.
    Aberration: Simple translocation
    Chromosomal Aneuploidy: 4q+
    Positive band
Copyright © 2011-2013, Digamber Borgaonkar.
Bookshelf ID: NBK105504

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