Phenotypic and cytogenetic features of an Iranian child with tetrasomy 18p syndrome:A case report  

作　　者：Sara Esmaeili Cory J Xian 

机构地区：[1]UniSA Clinical and Health Sciences,University of South Australia,Adelaide 5001,SA,Australia

出　　处：《World Journal of Medical Genetics》2023年第1期1-7,共7页世界医学遗传学杂志

摘　　要：BACKGROUND Tetrasomy 18p is a rare chromosome abnormality disorder known to have consid-erable variability in clinical features and gathering data from different cases will help clinicians and researchers learn about its genotype-phenotype relationship and diagnosis.CASE SUMMARY Herein,we have reviewed the literature on phenotypic features of this disorder and described the phenotypic and cytogenetic features of a girl of early childhood with tetrasomy 18p for the first time from Iran.This patient showed a strong sense of smell(a unique feature not reported previously for this syndrome),had clenched hand,pes planus,forward head posture in walking and hirsutism(dysmorphic features less reported),and showed 10 clinical features that are generally observed in previously reported cases,including developmental delay/intellectual disability,triangular face,smooth philtrum,feeding difficulties,hypotonia,epicanthus,strabismus,history of constipation,growth retardation and foot anomalies.G-banding chromosome analysis from peripheral blood revealed an abnormal female karyotype with a small marker chromosome(47,XX,+mar),and oligo-array comparative genomic hybridization displayed a gain of 14Mb of the 18p arm containing 56 Online Mendelian Inheritance in Man(OMIM)genes in this patient.Overall,this patient seems to have mild phenotypes.CONCLUSION This Iranian tetrasomy 18p child displays a uniquely strong sense of smell,some less reported dysmorphic features and ten features generally reported.

关 键 词：Tetrasomy 18p Phenotypic features Clinical features Chromosome abnormality Cytogenetic analysis Case report 

分 类 号：R73[医药卫生—肿瘤]