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Postnatal clinical phenotype of five patients with Pallister-Killian Syndrome (tetrasomy 12p): Interest of array CGH for diagnosis and review of the literature.
Alqahtani, Amerh Salem; Putoux, Audrey; Bonnet Dupeyron, Marie Noelle; Carneiro, Maryline; Lion-Francois, Laurence; Rossi, Massimiliano; Tevissen, Hélène; Schluth Bolard, Caroline; Labalme, Audrey; Lesca, Gaetan; Till, Marianne; Edery, Patrick; Sanlaville, Damien.
Afiliación
  • Alqahtani AS; Department of Medical Genetics, Women Mothers and Children's Hospital, Lyon Hospices Civils, Lyon, France.
  • Putoux A; Ministry of Higher Education, Riyadh, Saudi Arabia.
  • Bonnet Dupeyron MN; Department of Medical Genetics, Women Mothers and Children's Hospital, Lyon Hospices Civils, Lyon, France.
  • Carneiro M; Claude Bernard Lyon 1 University, Lyon, France.
  • Lion-Francois L; CRNL, CNRS UMR 5292, INSERM U1028, Lyon, France.
  • Rossi M; Department of Medical Genetics, Women Mothers and Children's Hospital, Lyon Hospices Civils, Lyon, France.
  • Tevissen H; Department of Genetics, Valence Hospital's Center, Valence, France.
  • Schluth Bolard C; Department of Neuropediatrics, Women Mothers and Children's Hospital, Lyon Hospices Civils, Lyon, France.
  • Labalme A; Department of Neuropediatrics, Women Mothers and Children's Hospital, Lyon Hospices Civils, Lyon, France.
  • Lesca G; Department of Medical Genetics, Women Mothers and Children's Hospital, Lyon Hospices Civils, Lyon, France.
  • Till M; CRNL, CNRS UMR 5292, INSERM U1028, Lyon, France.
  • Edery P; Department of Pediatrics, Valence Hospital's Center, Valence, France.
  • Sanlaville D; Department of Medical Genetics, Women Mothers and Children's Hospital, Lyon Hospices Civils, Lyon, France.
Mol Genet Genomic Med ; 7(10): e00939, 2019 10.
Article en En | MEDLINE | ID: mdl-31454185
BACKGROUND: Pallister-Killian syndrome (PKS) is a rare sporadic disorder caused by tetrasomy of the short arm of chromosome 12. The main clinical manifestations are global developmental delay, intellectual disability, epilepsy, dysmorphic features, hypopigmented and/or hyperpigmented lesions, and multiple congenital anomalies. PKS is associated with tissue mosaicism, which is difficult to diagnose through peripheral blood sample by conventional cytogenetic methods and fluorescence in situ hybridization. METHODS: Here, we report five patients with PKS. We delineate their clinical phenotypes and we compare them with previously published cases. We used array Comparative Genomic Hybridization (aCGH) with DNA extracted from peripheral blood samples. The five patients have also been tested by conventional cytogenetics techniques. RESULTS: Four out of five patients showed tetrasomy 12p by aCGH. Three of the four patients have typical i(12p) and one of the four demonstrated atypical tetrasomy 12p. The percentage of mosaicism was as low as 20%. Our cohort exhibited the typical PKS phenotypes. CONCLUSION: Our results demonstrate the efficacy of aCGH for the diagnosis of PKS from DNA extracted from lymphocytes. Thus, for patients suspected of PKS, we recommend performing aCGH on lymphocytes at an early age before  proceeding to skin biopsy. aCGH on peripheral blood samples is sensitive in detecting low level of mosaicism and it is less invasive method than skin biopsy. We reviewed also the literature concerning the previously published PKS patients diagnosed by aCGH.
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Trastornos de los Cromosomas Tipo de estudio: Diagnostic_studies Límite: Female / Humans / Infant / Male / Newborn Idioma: En Revista: Mol Genet Genomic Med Año: 2019 Tipo del documento: Article País de afiliación: Francia Pais de publicación: Estados Unidos
Texto completo
Añadir a Mi BVS
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Trastornos de los Cromosomas Tipo de estudio: Diagnostic_studies Límite: Female / Humans / Infant / Male / Newborn Idioma: En Revista: Mol Genet Genomic Med Año: 2019 Tipo del documento: Article País de afiliación: Francia Pais de publicación: Estados Unidos