Journal ArticleDOI
Short stature, type E brachydactyly, exostoses, gynecomastia, and cryptorchidism in a patient with 47,XYY/45,X/46,XY mosaicism.
Alexandra Monastirli,Sophia Georgiou,Efi Pasmatzi,Dionysios Tsambaos,E. Chroni,Aggeliki Katrivanou,Panagiotis Dimopoulos,G. Stephanou,C. Andrianopoulos,N.A. Demopoulos +9 more
TLDR
A 72-year-old male patient with a 47,XYY/45,X/46,XY mosaicism associated with short stature, exostoses, type E brachydactyly, gynecomastia, cryptorchidism, mild mental retardation, and a paranoid personality and conversion disorder is reported.About:
This article is published in The American Journal of the Medical Sciences.The article was published on 2005-04-01. It has received 7 citations till now. The article focuses on the topics: XYY Karyotype & 45,X/46,XY mosaicism.read more
Citations
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Journal ArticleDOI
Disorder of Sexual Development and Congenital Heart Defect in 47XYY: Clinical Disorder or Coincidence?
TL;DR: To the knowledge, this is the first case of 47XYY syndrome associated with this congenital heart malformation and a sexual development disorder involving an abnormal left coronary artery originating from the pulmonary artery in a 46XYY patient.
Journal ArticleDOI
Clinical and Cytogenetic Study of Egyptian Patients with Sex Chromosome Disorders of Sex Development.
TL;DR: A high incidence of sex chromosome DSD among Egyptian DSD patients with wide karyotype/phenotype diversity is showed and the most frequent sex chromosomes DSD detected among patients of the present study was Turner syndrome and variants.
Journal ArticleDOI
A 45,X/47,XYY/46,XY Karyotype and Y Chromosome Microdeletion in an Infertile Male
TL;DR: An infertile male patient with azoospermia, referred to the laboratory before intracytoplasmic sperm injection (ICSI), whose peripheral lymphocyte karyotype showed a 45, X/46, XY mosaicism, was not suggested to the patient due to the sex chromosome mosaic, Yq microdeletion and biopsy findings.
Journal ArticleDOI
Whether to transfer mosaic embryos: a cytogenetic view of true mosaicism by amniocentesis
Kun-Long Huang,Ching-Chang Tsai,Hsin-Hsin Cheng,Yu-Jen Huang,Yun-Ju Lai,Chou-Hui Wu,Pi-Yu Hsiao,Te-Yao Hsu,Kuo-Chung Lan +8 more
TL;DR: Mosaic monosomy X and trisomy 21 are the most common cell lines of true mosaicism determined by amniocentesis, and for women considering the transfer of these types of mosaic embryo in a circumstance where euploid embryos are unavailable, clinicians should provide careful prenatal counselling, detailed ultrasonography and amnocentesis.
Journal Article
Cytogenetic Analysis of Referral Cases with Growth Failure and Clinical Suspicion of having Chromosomal Abnormality
TL;DR: Turner syndrome with various forms of chromosomal complement is the most common chromosomal abnormality causing growth failure in girls, particularly in girls aged 5 month to 15 years.
References
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Journal ArticleDOI
Distribution of Human Chromosome Counts in Relation to Age
Journal Article
The phenotype of 45,X/46,XY mosaicism: an analysis of 92 prenatally diagnosed cases.
H J Chang,R D Clark,H Bachman +2 more
TL;DR: It is concluded that 95% of 45,X/46,XY fetuses will have normal male genitalia, although there will also be a significant risk for abnormal gonadal histology, and long-term follow-up studies are needed to study, without ascertainment bias, stature, pubertal development, tumor risk, and fertility.
Journal ArticleDOI
Y Chromosome aneuploidy, micronuclei, kinetochores and aging in men
TL;DR: The cause of micronucleus formation from a lagging Y chromosome appears probably to be either a faulty or a diminished amount of kinetochore protein.
Journal ArticleDOI
Intrauterine diagnosis of sex chromosome aneuploidy
TL;DR: Information about sex chromosome aneuploidy can assist obstetricians in providing accurate and comprehensive genetic counseling to parents of affected fetuses, and thereby facilitate the process of making an informed decision about pregnancy management.