PMID- 34405543 OWN - NLM STAT- MEDLINE DCOM- 20220221 LR - 20220221 IS - 1582-4934 (Electronic) IS - 1582-1838 (Print) IS - 1582-1838 (Linking) VI - 25 IP - 18 DP - 2021 Sep TI - Prenatal diagnosis of Pallister-Killian syndrome and literature review. PG - 8929-8935 LID - 10.1111/jcmm.16853 [doi] AB - Pallister-Killian syndrome (PKS) is a rare sporadic genetic disorder usually caused by mosaicism of an extra isochromosome of 12p (i(12p)). This retrospective study analysed the prenatal ultrasound manifestations and molecular and cytogenetic results of five PKS foetuses. Samples of amniotic fluid and/or cord blood, skin biopsy and placenta were collected. Conventional karyotyping and single nucleotide polymorphism array (SNP array) were performed on all the amniotic fluid or cord blood samples. Copy number variants sequencing (CNV-seq) and fluorescence in situ hybridization (FISH) were also used for the validation for one foetus. All the five foetuses were from pregnancies with advanced parental age. Two foetuses involved structural abnormalities and one foetus had only soft markers, all of which included increased nuchal translucency. The rest two foetuses had normal ultrasounds in the second trimester, which has rarely been reported before. The karyotype revealed typical i(12p) in four cases and a small supernumerary marker chromosome consisting of 12p and 20p in the remaining one case. The proportion of cells with i(12p) ranged from 0 to 100% in cultural cells, while SNP array results suggested 2-4 copies of 12p. For one foetus, metaphase FISH showed normal results, but the interphase FISH suggested cell lines with two, three and four copies of 12p in the amniotic fluid. Advanced parental age may be an important risk factor for PKS, and there were no typical ultrasound manifestations related to PKS. A combination of karyotype analysis and molecular diagnosis is an effective method for the diagnosis of PKS. CI - (c) 2021 The Authors. Journal of Cellular and Molecular Medicine published by Foundation for Cellular and Molecular Medicine and John Wiley & Sons Ltd. FAU - Wu, Xiaoqing AU - Wu X AUID- ORCID: 0000-0003-2605-2362 AD - Fujian Provincial Key Laboratory for Prenatal Diagnosis and Birth Defect, Medical Genetic Diagnosis and Therapy Center of Fujian Provincial Maternity and Child Hospital, Affiliated Hospital of Fujian Medical University, Fuzhou, China. AD - Department of Laboratory Medicine, Fujian Medical University, Fuzhou, China. FAU - Xie, Xiaorui AU - Xie X AD - Fujian Provincial Key Laboratory for Prenatal Diagnosis and Birth Defect, Medical Genetic Diagnosis and Therapy Center of Fujian Provincial Maternity and Child Hospital, Affiliated Hospital of Fujian Medical University, Fuzhou, China. FAU - Su, Linjuan AU - Su L AUID- ORCID: 0000-0001-7203-0821 AD - Fujian Provincial Key Laboratory for Prenatal Diagnosis and Birth Defect, Medical Genetic Diagnosis and Therapy Center of Fujian Provincial Maternity and Child Hospital, Affiliated Hospital of Fujian Medical University, Fuzhou, China. FAU - Lin, Na AU - Lin N AD - Fujian Provincial Key Laboratory for Prenatal Diagnosis and Birth Defect, Medical Genetic Diagnosis and Therapy Center of Fujian Provincial Maternity and Child Hospital, Affiliated Hospital of Fujian Medical University, Fuzhou, China. FAU - Liang, Bin AU - Liang B AD - Fujian Provincial Key Laboratory for Prenatal Diagnosis and Birth Defect, Medical Genetic Diagnosis and Therapy Center of Fujian Provincial Maternity and Child Hospital, Affiliated Hospital of Fujian Medical University, Fuzhou, China. FAU - Guo, Nan AU - Guo N AD - Fujian Provincial Key Laboratory for Prenatal Diagnosis and Birth Defect, Medical Genetic Diagnosis and Therapy Center of Fujian Provincial Maternity and Child Hospital, Affiliated Hospital of Fujian Medical University, Fuzhou, China. FAU - Chen, Qingquan AU - Chen Q AD - Department of Laboratory Medicine, Fujian Medical University, Fuzhou, China. FAU - Xu, Liangpu AU - Xu L AD - Fujian Provincial Key Laboratory for Prenatal Diagnosis and Birth Defect, Medical Genetic Diagnosis and Therapy Center of Fujian Provincial Maternity and Child Hospital, Affiliated Hospital of Fujian Medical University, Fuzhou, China. FAU - Huang, Hailong AU - Huang H AUID- ORCID: 0000-0003-2924-399X AD - Fujian Provincial Key Laboratory for Prenatal Diagnosis and Birth Defect, Medical Genetic Diagnosis and Therapy Center of Fujian Provincial Maternity and Child Hospital, Affiliated Hospital of Fujian Medical University, Fuzhou, China. LA - eng PT - Journal Article DEP - 20210818 PL - England TA - J Cell Mol Med JT - Journal of cellular and molecular medicine JID - 101083777 RN - Pallister Killian syndrome SB - IM MH - Adult MH - Chromosome Disorders/*diagnosis MH - Chromosomes, Human, Pair 12 MH - Female MH - Fetus/*abnormalities MH - Humans MH - Karyotyping/*methods MH - Pregnancy MH - Prenatal Diagnosis/*methods MH - Retrospective Studies PMC - PMC8435413 OTO - NOTNLM OT - Pallister-Killian syndrome OT - copy number variants sequencing OT - fluorescence in situ hybridization OT - nucleotide polymorphism array OT - prenatal diagnosis OT - ultrasound manifestation COIS- The authors declare they have no conflict of interest. EDAT- 2021/08/19 06:00 MHDA- 2022/02/22 06:00 PMCR- 2021/09/01 CRDT- 2021/08/18 06:52 PHST- 2021/06/19 00:00 [received] PHST- 2021/07/31 00:00 [accepted] PHST- 2021/08/19 06:00 [pubmed] PHST- 2022/02/22 06:00 [medline] PHST- 2021/08/18 06:52 [entrez] PHST- 2021/09/01 00:00 [pmc-release] AID - JCMM16853 [pii] AID - 10.1111/jcmm.16853 [doi] PST - ppublish SO - J Cell Mol Med. 2021 Sep;25(18):8929-8935. doi: 10.1111/jcmm.16853. Epub 2021 Aug 18.