PHENOTYPIC VARIATIONS IN WOLFHIRSCHHORN SYNDROME
Sukarova-Angelovska E, Kocova M, Sabolich V, Palcevska S, Angelkova N
*Corresponding Author: Doz. Elena Sukarova-Angelovska, Pediatric Clinic, Medical Faculty, Vodnjanska 17, 1000 Skopje, Republic of Macedonia. Tel.: +389-70358582. Fax: +389-22439301. E-mail: Esukarova@doctor.com
page: 23

CONCLUSIONS

If a cytogenetically visible deletion is present, a clinical diagnosis of WHS can easily be determined. If a microdeletion is present, the diagnosis is often difficult and can be suggested or made by an experienced dysmorphologist. Therefore, if clinical suspicion of WHS is still present, other molecular techniques (FISH, CGH) are recommended. The collaboration of clinical geneticist, cytogeneticist, and neurologists is essential for diagnosis, treatment, and follow-up of children with WHS. Our cohort of six patients with a variable length of the deleted chromosome 4p, provides additional evidence that the amount of a deleted region is essential for the severity of the phenotype, i.e., a larger deletion correlates with a more severe clinical presentation. Additionally, several anomalies are described in this study that have not been described elsewhere, and should therefore be included in the phenotypic spectrum of the syndrome. Declaration of Interest. The authors report no conflicts of interest. The authors alone are responsible for the content and writing of this article.



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