Research & Literature

Prenatally identified Pallister-Killian syndrome: Ultrasound pattern and diagnostic considerations.

Santamaria A, Laganà AS, Barresi V, et al.

Journal of obstetrics and gynaecology : the journal of the Institute of Obstetrics and Gynaecology 2016; (36(3)):406-7 doi:10.3109/01443615.2015.1086984.

Dental Treatment of a Child with Pallister-Killian Syndrome.

Didinen S, Atabek D, Kip G, et al.

Case reports in dentistry 2016; (2016()):4130961 doi:10.1155/2016/4130961.

[Prenatal and clinicopathological study of 6 cases of Pallister-Killian syndrome and review].

Desseauve D, Legendre M, Dugué-Maréchaud M, et al.

Gynecologie, obstetrique & fertilite 2016; (44(4)):200-6.

Mosaic ratio quantification of isochromosome 12p in Pallister-Killian syndrome using droplet digital PCR.

Fujiki K, Shirahige K, Kaur M, et al.

Molecular genetics & genomic medicine 2016; (4(3)):257-61 doi:10.1002/mgg3.200.

Oro-dental features of Pallister-Killian syndrome: Evaluation of 21 European probands.

Bagattoni S, D'Alessandro G, Sadotti A, et al.

American journal of medical genetics. Part A 2016; (170(9)):2357-64 doi:10.1002/ajmg.a.37815.

Using Array-Based Comparative Genomic Hybridization to Diagnose Pallister-Killian Syndrome.

Lee MN, Lee J, Yu HJ, et al.

Annals of laboratory medicine 2017; (37(1)):66-70 doi:10.3343/alm.2017.37.1.66.

Pallister-Killian syndrome: Cytogenetics and molecular investigations of mosaic tetrasomy 12p in prenatal chorionic villus and in amniocytes. Strategy of prenatal diagnosis.

Libotte F, Bizzoco D, Gabrielli I, et al.

Taiwanese journal of obstetrics & gynecology 2016; (55(6)):863-866 doi:10.1016/j.tjog.2016.07.010.

Progressive subglottic stenosis in a child with Pallister-Killian syndrome.

Shiohama T, Fujii K, Shimizu K, et al.

Congenital anomalies 2018; (58(3)):102-104 doi:10.1111/cga.12240.

A review of structural brain abnormalities in Pallister-Killian syndrome.

Poulton C, Baynam G, Yates C, et al.

Molecular genetics & genomic medicine 2018; (6(1)):92-98 doi:10.1002/mgg3.351.

Fetoplacental cytogenetic discrepancy in a pregnancy with fetal mosaic tetrasomy 12p and Pallister-Killian syndrome detected by amniocentesis.

Chen CP, Wang LK, Chern SR, et al.

Taiwanese journal of obstetrics & gynecology 2017; (56(6)):852-856 doi:10.1016/j.tjog.2017.10.034.

Neuroimaging findings in Pallister-Killian syndrome.

Barkovich EJ, Lateef TM, Whitehead MT

The neuroradiology journal 2018; (31(4)):403-411 doi:10.1177/1971400917744798.

Central sleep apnea during continuous positive airway pressure therapy in obstructive sleep apnea patients: from the compliance to adaptation, maladaptation and reflexes.

Lombardi C, Caravita S, Parati G

Journal of thoracic disease 2017; (9(11)):4152-4156 doi:10.21037/jtd.2017.09.116.

[Pallister-Killian syndrome in a Mexican mestizo patient. Case report].

Mendelsberg-Fishbein P, García-Delgado C, Muñoz-Martínez LB, et al.

Archivos argentinos de pediatria 2018; (116(1)):e135-e138 doi:10.5546/aap.2018.e135.

[Application of single nucleotide polymorphism microarray and fluorescence in situ hybridization analysis for the prenatal diagnosis of a case with Pallister-Killian syndrome].

Zhang W, Guo Z, Wang W, et al.

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2018; (35(2)):232-235 doi:10.3760/cma.j.issn.1003-9406.2018.02.019.

Pallister-Killian syndrome: Review of fetal phenotype.

Thakur S, Gupta R, Tiwari B, et al.

Clinical genetics 2019; (95(1)):79-84 doi:10.1111/cge.13381.

Prenatal profile of Pallister-Killian syndrome: Retrospective analysis of 114 pregnancies, literature review and approach to prenatal diagnosis.

Salzano E, Raible SE, Kaur M, et al.

American journal of medical genetics. Part A 2018; (176(12)):2575-2586 doi:10.1002/ajmg.a.40499.

Pallister-Killian Syndrome: The Diagnosis is in the Detail.

Sailer S, Díaz GA, García MH, et al.

Klinische Padiatrie 2019; (231(2)):93-95 doi:10.1055/a-0781-2564.

Pallister-Killian Mosaic Syndrome in an Omani Newborn: A Case Report and Literature Review.

Elsheikh A, Al Shehhi M, Goud TM, et al.

Oman medical journal 2019; (34(3)):249-253 doi:10.5001/omj.2019.47.

Myoclonic epilepsy with photosensitivity in infants with Pallister-Killian Syndrome.

Ricci E, Bonfatti R, Rocca A, et al.

European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society 2019; (23(4)):653-656 doi:10.1016/j.ejpn.2019.05.012.

Postnatal clinical phenotype of five patients with Pallister-Killian Syndrome (tetrasomy 12p): Interest of array CGH for diagnosis and review of the literature.

Alqahtani AS, Putoux A, Bonnet Dupeyron MN, et al.

Molecular genetics & genomic medicine 2019; (7(10)):e00939 doi:10.1002/mgg3.939.

Clinical Variability of Pallister-Killian Syndrome in Two Egyptian Patients.

Eid MM, Eid OM, Abdel-Hadi S, et al.

Journal of pediatric genetics 2020; (9(3)):207-210 doi:10.1055/s-0039-3400489.

Seizures and Cardiomyopathy in a Patient with Pallister-Killian Syndrome due to Hexasomy 12p Mosaicism.

Toydemir RM, Panza E, Longhurst MC, et al.

Molecular syndromology 2020; (11(3)):125-129 doi:10.1159/000507598.

Polymicrogyria with calcification in Pallister-Killian syndrome detected by microarray analysis.

Hiraiwa A, Matsui K, Nakayama Y, et al.

Brain & development 2021; (43(3)):448-453 doi:10.1016/j.braindev.2020.11.003.

Pallister-Killian Syndrome versus Trisomy 12p-A Clinical Study of 5 New Cases and a Literature Review.

Arghir A, Popescu R, Resmerita I, et al.

Genes 2021; (12(6)) doi:10.3390/genes12060811.

Prenatal diagnosis of Pallister-Killian syndrome and literature review.

Wu X, Xie X, Su L, et al.

Journal of cellular and molecular medicine 2021; (25(18)):8929-8935 doi:10.1111/jcmm.16853.

Sleep in Children With Pallister Killian Syndrome: A Prospective Clinical and Videopolysomnographic Study.

Fetta A, Di Pisa V, Ruscelli M, et al.

Frontiers in neurology 2021; (12()):796828 doi:10.3389/fneur.2021.796828.

Cognitive, Behavioral, and Sensory Profile of Pallister-Killian Syndrome: A Prospective Study of 22 Individuals.

Fetta A, Soliani L, Trevisan A, et al.

Genes 2022; (13(2)) doi:10.3390/genes13020356.

Case Report: A Case Study on the Neurodevelopmental Profile of a Child With Pallister-Killian Syndrome and His Unaffected Twin.

Samango-Sprouse CA, Hamzik MP, Rosenbaum K, et al.

Frontiers in pediatrics 2022; (10()):817133 doi:10.3389/fped.2022.817133.

Congenital Diaphragmatic Hernia Repair in a Patient With Pallister-Killian Mosaic Syndrome and Left Ventricular Hypoplasia.

Kostyk P, Salik I

Cureus 2022; (14(3)):e23095 doi:10.7759/cureus.23095.

Assessment of Central Sleep Apnea Events in Children with Sleep-Disordered Breathing.

Kaplan A, Ulualp SO

Sleep disorders 2022; (2022()):2590337 doi:10.1155/2022/2590337.

Trisomy 12p mosaicism syndrome in a patient with hypopigmented cutaneous mosaicism and three cell lines in peripheral blood.

Porcar Saura S, Díaz Giménez M, Guillén-Climent S, et al.

Journal of the European Academy of Dermatology and Venereology : JEADV 2023; (37(1)):e54-e58 doi:10.1111/jdv.18555.

Case Report: Early Neonatal EEG in Two Infants with Pallister Killian Syndrome (PKS).

Stephens CM, Pavel AM, Mathieson SR, et al.

HRB open research 2022; (5()):14 doi:10.12688/hrbopenres.13493.1.

Prenatal diagnosis of a case with complete and uniform tetrasomy 12p by the utility of noninvasive prenatal testing.

Zhang F, Yin T, Tang X, et al.

Journal of assisted reproduction and genetics 2023; (40(9)):2233-2240 doi:10.1007/s10815-023-02896-8.

Co-Occurrence of Pallister-Killian Syndrome and Burkitt Lymphoma in a Patient with Near-Normal Neurocognitive Development.

Izumi K, Ganetzky RD, Wertheim GBW, et al.

Molecular syndromology 2023; (14(4)):303-309 doi:10.1159/000530197.

Case report: A girl with witnessed sleep apnea.

Wu S, Wang W, Han F, Xu L

Frontiers in neurology 2023; (14()):1337236 doi:10.3389/fneur.2023.1337236.

Structural brain abnormalities in Pallister-Killian syndrome: a neuroimaging study of 31 children.

Fetta A, Toni F, Pettenuzzo I, et al.

Orphanet journal of rare diseases 2024; (19(1)):107 doi:10.1186/s13023-024-03065-5.

Pineocytoma in a child with Pallister-Killian syndrome: a case report and review of the literature.

De Martino L, Russo C, Bifano D, et al.

Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery 2024; (40(8)):2619-2623 doi:10.1007/s00381-024-06426-4.

The impact of tonsillectomy and/or adenoidectomy on cognitive function and brain structure in pediatric patients with OSAHS.

Lin C, Huang Y, Lin Q

Technology and health care : official journal of the European Society for Engineering and Medicine 2025; (33(1)):321-331 doi:10.3233/THC-241028.