Identification of aggressive Gardner syndrome phenotype associated with a de novo APC variant, c.4666dup
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چکیده
منابع مشابه
A rare case of a de novo dup(19q) associated with a mild phenotype.
Partial trisomy of the long arm of chromosome 19q is an uncommon aneusomy and has been reported in only 18 cases. Fourteen of these were the result of unbalanced translocations. Only four cases were the result of pure duplications. The phenotype described includes microcephaly, heart malformations, anomalies of the genitourinary tract or gastrointestinal system, and growth retardation. Developm...
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We describe a female infant who presented with hypotonia and developmental delay. Her karyotype showed a de novo balanced translocation between the X chromosome and chromosome 13, with breakpoints at Xq13 and 13p11. The normal X was late replicating in all cells examined. The cause of this patient's abnormal phenotype is discussed.
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Dear Editor, Mastocytosis refers to a group of rare clinical disorders, in which mast cells expand abnormally and accumulate in various organs [1, 2]. Mast cell leukemia (MCL) is a rare and aggressive form of systemic mastocytosis and accounts for 1% of all mastocytosis [3]. Due to its rarity, making a prompt diagnosis is difficult when unaware of the morphological characters of the abnormal ma...
متن کاملA de novo insertion, detected prenatally, with normal phenotype.
Received 10 July 1991. Accepted 3 September 1991. A 29 year old woman presented for amniocentesis because of a low maternal serum a fetoprotein. She had had eight miscarriages over an 1-1 year period. She had one normal son from her second pregnancy. She, her husband, and the son all had a normal karyotype. The amniocentesis showed an interchromosomal insertion with the non-mosaic karyotype 46,...
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Our laboratory recently characterized a novel autism spectrum disorder (ASD)-associated de novo missense mutation in the human dopamine transporter (hDAT) gene SLC6A3 (hDAT T356M). This hDAT variant exhibits dysfunctional forward and reverse transport properties that may contribute to DA dysfunction in ASD. Here, we report that Zn(2+) reverses, at least in part, the functional deficits of ASD-a...
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ژورنال
عنوان ژورنال: Molecular Case Studies
سال: 2019
ISSN: 2373-2865,2373-2873
DOI: 10.1101/mcs.a003640