Cytogenomic delineation and clinical follow-up of 10 Brazilian patients with Pallister-Killian syndrome

Author(s)

de Athayde Costa, Larissa Sampaio ^[1] ; Zandona-Teixeira, Aline C. ^{[1, 2]} ; Montenegro, Marilia M. ^{[1, 2]} ; Dias, Alexandre T. ^[2] ; Dutra, Roberta L. ^{[1, 2]} ; Honjo, Rachel S. ^[1] ; Bertola, Debora R. ^[1] ; Kulikowski, Leslie D. ^{[1, 2]} ; Kim, Chong A. ^[1]

Affiliation

^[1] Univ Sao Paulo, Dept Pediat, Unidade Genet, Inst Crianca HCFMUSP, Sao Paulo - Brazil

^[2] Univ Sao Paulo, Fac Med, Dept Patol, Lab Citogen, HCFMUSP, LIM 03, Sao Paulo - Brazil

• Document type: Journal article
• Source: MOLECULAR CYTOGENETICS; v. 8, JUN 26 2015.
• Web of Science Citations: 2

Abstract

Background: Pallister-Killian syndrome (PKS) is a sporadic genetic disorder caused by the presence of a tissue-specific mosaicism for isochromosome 12p - i(12) (p10) and is characterized by facial dysmorphism including coarse facies, upslanting palpebral fissures, bitemporal alopecia, pigmentary skin anomalies, developmental delay, hypotonia and seizures. Although typical clinical features of PKS commonly exist, clinicians often do not raise the possibility of this diagnosis. Results: We reviewed the medical records of 10 patients with confirmed PKS followed in our service (since 1990 to 2015). Age at diagnosis varied from prenatal to 3 years and clinical features were consistent with those described in the literature. In all patients, peripheral blood karyotypes were normal and cytogenomic study was performed in order to confirm the diagnosis. Three of these patients had PKS diagnosis confirmed by buccal smear MLPA. Conclusion: An early conclusion from our results demonstrated that MLPA on buccal smears is a good and non-invasive method to detect extra copies of 12p and should be considered as the first exam, before a skin biopsy for a fibroblast karyotype is performed. (AU)

• FAPESP's process: 11/16664-0 - Clinical and molecular genetic study in patients presenting skin pigmentary dysplasia associated with NEUROPSYCHOMOTOR retardation and some dysmorphic features
• Grantee: Aline Cristina Zandoná Teixeira
• Support Opportunities: Scholarships in Brazil - Master
• FAPESP's process: 09/53105-9 - Application of molecular cytogenetic in the diagnosis of patients with congenital anomalies for the reduction of infant mortality
• Grantee: Leslie Domenici Kulikowski
• Support Opportunities: Research Grants - Research in Public Policies for the National Health Care System (PP-SUS)