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
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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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