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

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.

osaicism of Tetrasomy 18p： Clinical and Cytogenetic Findings in a Female Child

INTRODUCTION The tetrasomy 18p （OMIM 614290） is a very rare chromosomal abnormality, with a prevalence of 1/140,000-180,000 live births,Although it has been known in some countries, it has been seldom reported in China. Especially, mosaicism for tetrasomy 18p is even rare. Because of a very limited number of cases, the phenotypic spectrum of mosaic tetrasomy 18p, the complications, and prognosis are unknown. In this study, we reported a patient with mosaic tetrasomy 18p by conventional karyotyping analysis, high-resolution single nucleotide polymorphism （SNP） array, and fluorescence in situ hybridization （FISH）.

Prenatal diagnosis of nonmosaic tetrasomy 9p by microdissection and FISH:case report

Marker chromosome （mar） is a structurally abnormal chromosome that can not be identified with conventional cytogenetic techniques （ISCN, 2005）. The incidence of supernumerary marker chromosomes （SMCs） found at prenatal diagnosis varies from 0.4/1000 to 1.5/1000. Their genetic effects may range from harmless to detrimental, and in de novo cases, the rate of phenotypic abnormalities is statistically increased. Therefore, identification of SMCs has become imperative in prenatal diagnosis.

A Case with XXXX Syndrome Who Was Incidentally Diagnosed during Examination for Suspected Post-Human Papillomavirus Vaccination Syndrome

A 19-year-old Japanese woman was referred to us with the complaints of arthralgia and meralgia following human papillomavirus (HPV) vaccination. She received HPV vaccination at the age of 15 years and three years later, she developed intermittent arthralgia, meralgia, and numbness in limbs. There were no orthostatic dysregulation symptoms. She had hypertelorism, and brachydactyly in both the hands, and revealed mild cubitus varus deformity with lateral instability. X-ray examination disclosed hypoplasia of the humeral capitellum and trochlea in elbow joints. G-banded chromosomes were shown to be composed of 48, XXXX. She was, therefore, diagnosed with XXXX syndrome, which explained the reason for her limb symptoms. Although some girls with HPV vaccination complain of various symptoms including limb pain and numbness, exact underlying cause of these symptoms needs to be ascertained carefully for reaching a final diagnosis.