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Please use this identifier to cite or link to this item: http://repository.li.mahidol.ac.th/dspace/handle/123456789/23467
Title: Contiguous gene syndrome of holoprosencephaly and hypotrichosis simplex: Association with an 18p11.3 deletion
Authors: Piranit N. Kantaputra
Chanin Limwongse
Chintana Tochareontanaphol
Apiwat Mutirangura
Umnat Mevatee
Verayuth Praphanphoj
Chiang Mai University
Mahidol University
Chulalongkorn University
Rajanukul Institute
Keywords: Medicine
Issue Date: 1-Dec-2006
Citation: American Journal of Medical Genetics, Part A. Vol.140, No.23 (2006), 2598-2602
Abstract: We report a patient with a unique combination of features, including microcephaly; mental retardation; poorly developed frontal lobes; hypoplastic pituitary gland; hypothyroidism; alopecia universalis; single maxillary central incisor; taurodontism; median palatal ridge; longitudinally grooved nails; and scoliosis. His unbalanced karyotype was found to be 45,XY,der(15;18)(q10;q10). The constellation of anomalies appears to represent a contiguous gene syndrome caused, at least in part, by deletion of TGIF and the gene responsible for hereditary hypotrichosis simplex. The phenotype of our patient differs other reported patients with del(18p). Possible explanations include (1) the effects of a different deleted region, (2) a positional effect caused by a gene close by, or (3) by interruption of a different gene resulting from chromosomal translocation. © 2006 Wiley-Liss, Inc.
URI: https://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=33845236580&origin=inward
http://repository.li.mahidol.ac.th/dspace/handle/123456789/23467
ISSN: 15524833
15524825
Appears in Collections:Scopus 2006-2010

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