49,XXXXY syndrome: A case study and a systematic review of clinical features among the Iranian population

Abstract

The present study describes the clinical, biochemical, hormonal, and developmental characteristics of a patient affected 49,XXXXY syndrome with routine Fraccaro syndrome features accompanied by sexual masturbation behavior. This study summarized the clinical features and also maternal age on birth time of so far 49,XXXXY reported patients among the Iranian population.

The timely diagnosis of 49, XXXXY with the combined detection of MLPA, karyotype, and QF-PCR in a newborn with multiple congenital malformations: a case report

“…Then, this egg containing the four abnormal X chromosomes combines with a normal male sperm ( 5 ). 49, XXXXY appears to be maternally derived but is unrelated to maternal age ( 13 , 21 , 22 ). Our STR-marker analysis results showed that one locus was homozygous, while the other three loci were heterozygous.…”

“…Although the NIPS tool has been widely used, it can result in some false low-risk results ( 9 ). Therefore, children with 49, XXXXY were found clinically, and some were diagnosed even in adulthood ( 12 , 13 ). In recent years, increasing research has shown that early intervention and EHT in preschool boys with 49, XXXXY will produce significant therapeutic effects ( 6 ).…”

“…QF-PCR is a convenient method to identify the origin of the chromosome in aneuploidy diseases by analyzing the STR polymorphism ( 21 , 22 ). But it is mainly used to check the number of 13, 18, 21 and sex chromosome ( 13 , 22 ). In addition compared to microarray analysis and FISH, MLPA provides a faster, high-throughput, and more economical means of quantifying copy numbers of up to 60 different genomic DNA sequences simultaneously ( 18 ).…”

“…Due to the gradual onset of developmental delay and slowly discovered skeletal, cardiac malformation, the child usually will be typically diagnosed several months or years later ( 10 , 11 ). Even some people were found to be 49, XXXXY at the age of 19 years old ( 12 , 13 ). Diagnosis at birth is rarely reported, in these cases karyotype was performed because of the unusual sonographic signs prenatal ( 10 ), atypical genitals ( 14 , 15 ), or respiratory distress ( 16 ).…”

“…Nowadays, the methods used to discover 49, XXXXY include karyotype, quantitative fluorescent polymerase chain reaction (QF-PCR) ( 13 ), fluorescence in situ hybridization (FISH) ( 13 ), chromosome microarray ( 17 ), and the karyotype were still regarded as the final definite test ( 15 , 16 ). Here, we applied a cost-effective, rapid, and reliable complementary method of multiplex ligation-dependent probe amplification (MLPA) ( 18 ) to screen whether the number of chromosomes was abnormal, then karyotyping was used to diagnose 49, XXXXY syndrome and QF-PCR was used to analyze the potential origin of the three extra chromosomes.…”