Corpus ID: 42060255

Congenital Heart Disease in an Infant with 49 , XXXXY Syndrome 49 , XXXXY Sendromlu Bir Çocukta Konjenital Kalp Hastalığı

@inproceedings{Argun2015CongenitalHD,
  title={Congenital Heart Disease in an Infant with 49 , XXXXY Syndrome 49 , XXXXY Sendromlu Bir Çocukta Konjenital Kalp Hastalığı},
  author={Mustafa Argun and Mustafa Ali Akın and Selim Kurtoğlu and Dilek Sarıca and Abdullah {\"O}zyurt and {\"O}zge Pamukcu and Ali Haydar Baykan},
  year={2015}
}
J Curr Pediatr 2015;13:63-7 Öz 49,XXXXY sendromu, 46,XY’ye ekstra üç X kromozomu eklenmesi ile karakterize nadir görülen cinsiyet kromozom anöploidi hastalığıdır. Klasik bulguları mental retardasyon, hipogonadizm, radioulnar sinostozis triadı olarak tanımlanmıştır. 49,XXXXY sendromunda patent duktus arteriozus, atriyal septal defekt, ventrikuler septal defekt, pulmoner stenoz, Fallot tetralojisi gibi konjenital kalp defektleri bildirilmiştir. Yenidoğan döneminde düşük doğum ağırlığı, kısa boy… Expand

Figures and Tables from this paper

References

SHOWING 1-10 OF 15 REFERENCES
49, XXXXY syndrome.
  • J. Hou
  • Medicine
  • Chang Gung medical journal
  • 2004
TLDR
Ch Chromosomal studies via techniques of G-banding and fluorescence in situ hybridization showed the constitution to be 47, XXXXY in all cells. Expand
Parental Origin and Cell Stage Errors in X-Chromosome Polysomy 49, XXXXY
TLDR
This report provides evidence for successive non disjunctions in maternal meiosis I and II and describes a patient with 49, XXXXY syndrome who had many characteristics of Fraccaro syndrome; language impairment, mongoloid slant, epicanthal folds, cryptorchidism, umbilical hernia and dysmyelinization in his brain. Expand
Brain magnetic resonance imaging findings in 49,XXXXY syndrome.
TLDR
Changes in white matter may represent a specific finding in patients with severe Klinefelter syndrome variants such as 49,XXXXY, and karyotype analysis should be considered in Patients with unexplained white-matter disease, especially when developmental delay or genital abnormalities are present. Expand
Klinefelter syndrome and other sex chromosomal aneuploidies
TLDR
The effects on physical and cognitive development increase with the number of extra Xs, and each extra X is associated with an intelligence quotient (IQ) decrease of approximately 15–16 points, with language most affected, particularly expressive language skills. Expand
48,XXYY, 48,XXXY and 49,XXXXY syndromes: not just variants of Klinefelter syndrome
TLDR
Sex chromosome tetrasomy and pentasomy conditions are associated with additional physical findings, congenital malformations, medical problems and psychological features, and the spectrum of cognitive abilities extends much higher than originally described. Expand
49,XXXXY: a distinct phenotype. Three new cases and review.
TLDR
The 49,XXXXY syndrome is delineated as separate from Klinefelter syndrome, and the prevalence of congenital heart defects is emphasised. Expand
Congenital heart disease in 49, XXXXY syndrome.
TLDR
This communication describes two patients with the 49,XXXXY syndrome and reviews the literature to attempt to determine the actual frequency and types of congenital heart disease seen in this syndrome. Expand
X-chromosome polysomy in the male
TLDR
In 25 patients with other X-chromosome polysomies (2 n≥48 chromosomes) genotype/phenotype correlation is reviewed, especially for the patients with 48,XXYY and 49,XXXXY karyotypes. Expand
49,XXXXY Syndrome with Diabetes Mellitus
TLDR
An 18-year-old patient with 49,XXXXY syndrome accompanying diabetes mellitus is reported, a rare sex chromosome aneuploidy and characterized by mental retardation, skeletal defects, craniofacial anomalies and hypogonadism. Expand
A rare case of ambiguous genitalia.
TLDR
A term male newborn with 49,XXXXY syndrome presenting with ambiguous genitalia, multiple extra-gonadal anomalies, facial dysmorphism, and radioulnar synostosis is reported. Expand
...
1
2
...