Underlying karyotype abnormalities in IVF/ICSI patients.
Cytogenetic investigations are performed in couples asking for IVF or intracytoplasmic sperm injection (ICSI) treatment. These serve a diagnostic purpose because male or female infertility might have a chromosomal origin. Chromosomal aberrations found in these patients include numerical abnormalities, such as Klinefelter syndrome, XYY karyotype or Turner syndrome and its variants; sex reversions, such as XX males or XY females; and also structural abnormalities, such as Robertsonian or reciprocal translocations and inversions. Finding the chromosomal origin of infertility in a patient also has a prognostic value because it aids the management of pregnancies obtained after IVF or ICSI and may lead to a proposal of prenatal or preimplantation genetic diagnosis.
Chantot-Bastaraud
S
S
Université Pierre et Marie Curie-Paris 6, EA 1533, Paris, F-75012 France.
Ravel
C
C
Siffroi
J P
JP
D002869:Chromosome Aberrations; D012734:Disorders of Sex Development; D005260:Female; D005307:Fertilization in Vitro / Q000379:methods; D006570:Heterochromatin / Q000235:genetics; D006801:Humans; D007246:Infertility / Q000209:etiology / Q000235:genetics* / Q000628:therapy; D008297:Male; D011110:Polymorphism, Genetic; D011247:Pregnancy; D025064:Sex Chromosome Disorders / Q000150:complications; D012730:Sex Chromosomes / Q000737:chemistry; D020554:Sperm Injections, Intracytoplasmic / Q000379:methods
D006570:Heterochromatin