Abstract

MENDELSBERG-FISHBEIN, Paola et al. Paüister-KiUian syndrome in a Mexican mestizo patient: Case report. Arch. argent. pediatr. [online]. 2018, vol.116, n.1, pp.e135-e138. ISSN 0325-0075.  http://dx.doi.org/10.5546/aap.2018.e135.

Pallister-Killian syndrome is caused by a tetrasomy 12p mosaicism and is characterized by facial dysmorphism, pigmentary skin anomalies, congenital heart defects, diaphragmatic hernia, epilepsy and mental retardation. The diagnosis is complex as the cytogenetic analysis in blood is usually normal, requiring karyotyping in other tissues, therefore the clinical suspicion is critical to guide the diagnostic tests and the patient requires an interdisciplinary clinical evaluation regarding the several manifestation of the syndrome. W e present the case of a Mexican mestizo female patient of 4 years of age referred by psychomotor delay and cleft palate; the clinical multidisciplinary evaluation demonstrated characteristics corresponding to the Pallister-Killian syndrome. The GTG banding karyotype analysis was normal, the skin fibroblast was mos47,XX,i(12)(p10)|-#91;85|-#93;/46,XX|-#91;21|-#93;. This case is an example of the importance of the clinical evaluation in order to establish a diagnosis that is a challenge for the clinical multidisciplinary team to offer medical management and genetic counseling.

Keywords : Pallister-Killian syndrome; Tetrasomy 12p; Mosaicism.

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