How to cite this article: Kantaputra PN, Limwongse C, Tochareontanaphol C, Mutirangura A, Mevatee U, Praphanphoj V. 2006. Contiguous gene syndrome of holoprosencephaly and hypotrichosis simplex: Association with an 18p11.3 deletion. Am J Med Genet Part A 140A:2598–2602.
Contiguous gene syndrome of holoprosencephaly and hypotrichosis simplex: Association with an 18p11.3 deletion†
Article first published online: 25 SEP 2006
Copyright © 2006 Wiley-Liss, Inc.
American Journal of Medical Genetics Part A
Special Issue: Thirteenth Annual Robert J. Gorlin Conference on Dysmorphology; Facial and Oral Structures: Molecular Perspectives
Volume 140A, Issue 23, pages 2598–2602, 1 December 2006
How to Cite
Kantaputra, P. N., Limwongse, C., Tochareontanaphol, C., Mutirangura, A., Mevatee, U. and Praphanphoj, V. (2006), Contiguous gene syndrome of holoprosencephaly and hypotrichosis simplex: Association with an 18p11.3 deletion. Am. J. Med. Genet., 140A: 2598–2602. doi: 10.1002/ajmg.a.31386
- Issue published online: 21 NOV 2006
- Article first published online: 25 SEP 2006
- Manuscript Accepted: 2 JUN 2006
- Manuscript Received: 27 MAR 2006
- poorly developed frontal lobes;
- mental retardation;
- single maxillary central incisor;
- longitudinally grooved nails
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.