Balkan Journal of Medical Genetics

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

MATERIALS AND METHODS

Patient Analysis. In this study, six patients with classical features of WHS are presented. The dysmorphic profile has been assessed in all of them, including major and minor anomalies that have been described in the literature, using a specific software program (London Dysmorphology Database; Oxford University Press, London, UK). Facial dysmorphism was evaluated by two independent examiners. The number and severity of each dysmorphic feature was classified as minor [+], mild [++] and severe [+++] (Table 1, Figure 1). Assessment of postnatal adaptation was made according to the Apgar score and length of stay in the intensive care unit. Malformations of other organs and systems were described in all patients. Psychomotor evaluation was performed using standard neurological examination and developmental tests according to the Griffith scale. Chromosome Aalysis and Fluorescent In Situ Hybridization (FISH). Standard chromosome analysis of blood lymphocytes was performed. Cultivation was made using phytohemaglutinine for 3 days, harvesting was done using a standard procedure [20]. The slides were dyed by a G-banding technique. An Olympus BX51 microscope (Olympus Life Science Europa GmbH, Hamburg, Germany) and standard MetaSystems karyotyper (MetaSystems GmbH, Altussheim, Germany) was used for evaluating the chromosomes. At least 25 metaphases were analyzed for each patient (Figure 2). In patients where the karyotype was normal, standard protocol [21] for FISH analysis was performed using a high-sensitive Vysis probe (4p16.3, Cat. #05J29- 074; Abbott Molecular Inc., Des Plaines, IL, USA) with centromeric-control (green signal), and subtelomeric (red signal) including WHCR. Analysis was preformed both on chromosome preparations or interphase nuclei using fluorescent light microscope (Olympus BX51, Olympus Life Science Europa). At least 100 metaphase spreads or nuclei per case were analyzed. Adjacent filters were used: DAPI (4’,6-diamidino-2-phenylindole) for counterstaining, FITC (fluorescein isothiocyanate) for green and TRITC (thetramethylrhodamine isothyocyanate) for visualizing the color red. The software for computer analysis, MetaSystems-FISH (MetaSystems GmbH) was used (Figure 3). The severity of the clinical presentation: facial dysmorphism, mental retardation, major organ anomalies were correlated with cytogenetic findings (visible deletion of chromosome 4p or microdeletion) in all six patients.

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