Pallister-Killian syndrome: clinical, cytogenetic and molecular findings in 15 cases

Molecular Cytogenetics
Birsen KaramanSeher Basaran

Abstract

Pallister Killian syndrome (PKS, OMIM 601803) is a rare genetic disorder with a distinct phenotype caused by tissue- limited mosaicism tetrasomy of the short arm of chromosome 12, which usually cytogenetically presents as an extra isochromosome 12p.Wide phenotypic variability in PKS has been reported, ranging from pre-to perinatal death due to multiple congenital anomalies, especially diaphragmatic hernia, and classic phenotypes including seizures, severe developmental delay, macrosomia at birth, deafness, and distinct dysmorphic features, such as coarse face, temporal alopecia, a small nose with anteverted nostrils, long philtrum, and hypo-/hyper- pigmented streaks on the skin. Karyotypes obtained from cultured peripheral lymphocytes of 13 cases, who were diagnosed as PKS, were normal, while karyotypes obtained from cultured skin samples and buccal mucosa revealed the supernumerary mosaic i(12p). Mosaic karyotype was found in both fibroblast and buccal mucosa in 14 of 15 patients in our series, whereas in one stillbirth, following the clinical diagnosis of PKS, skin and buccal smear samples were taken, and all karyotypes from cultured fibroblasts revealed a supernumerary i(12p), while I-FISH study showed 60% mosaicism in mucos...Continue Reading

References

Mar 28, 1992·Lancet·D Donnai, A P Read
Feb 1, 1991·Journal of Medical Genetics·A Schinzel
Mar 1, 1990·American Journal of Medical Genetics·D ChitayatM M Johnston
Apr 1, 1990·American Journal of Medical Genetics·S L WengerM W Steele
Jun 1, 1987·Clinical Genetics·P PeltomäkiA de la Chapelle
Dec 1, 1985·Clinical Genetics·S GilgenkrantzM Prieur
Dec 1, 1988·Journal of Medical Genetics·D DonnaiT Andrews
Jul 1, 1987·Clinical Genetics·D L Van DykeL Weiss
Jun 1, 1986·Clinical Genetics·H RiveraJ M Cantú
Sep 1, 1982·European Journal of Pediatrics·J P FrynsH Van den Berghe
Jan 1, 1996·European Journal of Human Genetics : EJHG·M BuggeK Brøndum-Nielsen
Jan 1, 1996·European Journal of Human Genetics : EJHG·D KotzotA Schinzel
Mar 17, 1997·American Journal of Medical Genetics·V Cormier-DaireA Munnich
Feb 1, 1997·Clinical Genetics·G B SchaeferW G Sanger
Aug 24, 2000·Clinical Dysmorphology·B F ManasseT J de Ravel
Dec 12, 2002·American Journal of Medical Genetics. Part a·D GenevieveM Vekemans
Dec 23, 2004·Prenatal Diagnosis·Thomy J L de RavelJoris R Vermeesch
Feb 14, 2009·American Journal of Medical Genetics. Part a·Ida VogelJens Michael Hertz
Apr 3, 2009·Archives of Gynecology and Obstetrics·J KunzBarbara Fritz
Sep 4, 2009·The Korean journal of laboratory medicine·In Yang ParkKyungja Han
Jun 9, 2012·European Journal of Medical Genetics·Silke PauliIris Bartels
Nov 22, 2012·American Journal of Medical Genetics. Part a·Anna KostaneckaMary Pipan
Jan 9, 2013·Cytogenetic and Genome Research·T LiehrA B Hamid
Mar 15, 2013·Fetal Diagnosis and Therapy·E LloverasA Plaja
Nov 27, 2014·American Journal of Medical Genetics. Part C, Seminars in Medical Genetics·Kosuke Izumi, Ian D Krantz
Apr 19, 2015·Journal of Medical Genetics·Moira BlythDiana Baralle

❮ Previous
Next ❯

Citations

Sep 10, 2019·Molecular Cytogenetics·Ting WangHanbiao Chen
May 22, 2019·Genes·Ivan Y IourovSergei I Kutsev
Jul 18, 2019·Medicina·María Victoria Lapresa AlcaldeJosé María Sayagués
Jul 14, 2020·Advances in Neonatal Care : Official Journal of the National Association of Neonatal Nurses·Melissa K RobinsonWanda T Bradshaw
Dec 16, 2021·European Journal of Pediatric Surgery : Official Journal of Austrian Association of Pediatric Surgery ... [et Al] = Zeitschrift Für Kinderchirurgie·Charlotte BendixenWendy Kay Chung

❮ Previous
Next ❯

Methods Mentioned

BETA
biopsies
biopsy

Related Concepts

Related Feeds

Birth Defects

Birth defects encompass structural and functional alterations that occur during embryonic or fetal development and are present since birth. The cause may be genetic, environmental or unknown and can result in physical and/or mental impairment. Here is the latest research on birth defects.

© 2022 Meta ULC. All rights reserved