Cytogenetic diagnosis of Pallister Killian syndrome

González, García García, Martin García, García Gómez, Castelvi López, García Rodríguez, Méndez Rosado, Morales Rodríguez and Barrios Martínez

Health Leadership and Quality of Life, 2024, vol. 3, .344

Abstract: Introduction: Pallister-Killian syndrome (PKS) is a rare multiple congenital anomaly/intellectual disability syndrome caused by tissue-restricted, mosaic tetrasomy 12p. The most common signs are facial dysmorphism, rhizomelic shortening of the extremities, pigmentary mosaic in skin; craniofacial manifestations include a ''coarse'' face with a flat profile and a wide forehead with sparse scalp hair in temporofrontal regions. Objective: To describe the karyotype and clinical manifestations in patients with suspected Pallister Killian Syndrome. Methods: Chromosomal studies were performed using conventional techniques in peripheral blood samples and skin samples in two patients, and a sample of amniotic fluid from a 17.3-week pregnant woman due to positive markers in the ultrasound. Peripheral blood cultures showed normal karyotypes in patients 1 and 2. Results: The fibroblast culture karyotypes of the patients studied reflected: Case 1: 47, XY+ i (12p) [8]/46 XY [10], Case 2:47, XY+ i (12p) (p10) [11] y Case 3: 47, XX + i (12p) [7]/46, XX [5] respectively. Conclusions:The SPK detected by conventional cytogenetics allowed a conclusive diagnosis in skin samples, despite the lack of molecular cytogenetic techniques, in those cases where chromosomal aberrations are restricted to a certain group of cells.

Date: 2024
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Persistent link: https://EconPapers.repec.org/RePEc:dbk:health:v:3:y:2024:i::p:.344:id:.344

DOI: 10.56294/hl2024.344

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