title: Array comparative genomic hybridization analysis of small supernumerary marker chromosomes in human infertility.
abstract: Small supernumerary marker chromosomes (sSMC) are structurally abnormal chromosomes that cannot be unambiguously identified by conventional banding cytogenetics. This study describes four patients with sSMC in relation with infertility. Patient 1 had primary infertility. His brother, fertile, carried the same sSMC (patient 2). Patient 3 presented polycystic ovary syndrome and patient 4 primary ovarian insufficiency. Cytogenetic studies, array comparative genomic hybridization (CGH) and sperm analyses were compared with cases previously reported. sSMC corresponded to the 15q11.2 region (patients 1 and 2), the centromeric chromosome 15 region (patient 3) and the 21p11.2 region (patient 4). Array CGH showed 3.6-Mb gain for patients 1 and 2 and 0.266-Mb gain for patient 4. Sperm fluorescent in-situ hybridization analyses found ratios of 0.37 and 0.30 of sperm nuclei with sSMC(15) for patients 1 and 2, respectively (P < 0.001). An increase of sperm nuclei with disomy X, Y and 18 was noted for patient 1 compared with control and patient 2 (P < 0.001). Among the genes mapped in the unbalanced chromosomal regions, POTE B and BAGE are related to the testis and ovary, respectively. The implication of sSMC in infertility could be due to duplication, but also to mechanical effects perturbing meiosis.
authors: Université Paris-Sud, Service d'Histologie Embryologie et Cytogénétique, APHP, Hôpital Antoine Béclère, Clamart 92141, France. narjes.guediche@yahoo.fr
authors: N
authors: N
authors: Guediche
authors: L
authors: L
authors: Tosca
authors: A
authors: A
authors: Kara Terki
authors: C
authors: C
authors: Bas
authors: L
authors: L
authors: Lecerf
authors: J
authors: J
authors: Young
authors: A
authors: A
authors: Briand-Suleau
authors: B
authors: B
authors: Tou
authors: J
authors: J
authors: Bouligand
authors: S
authors: S
authors: Brisset
authors: M
authors: M
authors: Misrahi
authors: A
authors: A
authors: Guiochon-Mantel
authors: M
authors: M
authors: Goossens
authors: G
authors: G
authors: Tachdjian
mesh_terms: D000328:Adult; D002869:Chromosome Aberrations; D055028:Comparative Genomic Hybridization / Q000379:methods*; D003582:Cytogenetics; D005260:Female; D017353:Gene Deletion; D005819:Genetic Markers / Q000235:genetics*; D006801:Humans; D017404:In Situ Hybridization, Fluorescence / Q000379:methods; D007247:Infertility, Female / Q000235:genetics*; D007248:Infertility, Male / Q000235:genetics*; D008297:Male; D011085:Polycystic Ovary Syndrome / Q000235:genetics; D016133:Polymerase Chain Reaction / Q000379:methods; D013094:Spermatozoa / Q000378:metabolism
chemical_list: D005819:Genetic Markers