Familial small supernumerary marker chromosomes are predominantly inherited via the maternal line

Liehr, Thomas

doi:10.1097/00125817-200607000-00011

Cited by 29 publications

(38 citation statements)

References 8 publications

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“…4, 53% of the sSMC detected in connection with fertility problems were derived from one of the parents; for two of these cases euchromatin presence was proven (cases 59-60). Maternally derived sSMC occurred more frequently than paternally derived sSMC, an observation consistent with the recently outlined fact that familial sSMC are predominantly inherited via the maternal line (12). Unfortunately, no information was available as to whether fertility problems were already present in the parents of the sSMC carriers who had inherited an sSMC from one of the parents.…”

Section: Discussionsupporting

confidence: 63%

“…At present an involvement of only 19 of the 24 human chromosomes has been described in connection with fertility problems and sSMC-formation. Before the present study no sSMC [5] or sSMC [12] had been reported within this group of patients. Thus, as soon as more cases are comprehensively characterized, it is to be expected that examples for the remaining 5 chromosomes will also be observed in patients with fertility problems.…”

Section: Discussionmentioning

confidence: 59%

“…Several mechanisms seem to be involved here. (i) It has been shown repeatedly (12,15) that sSMC are more likely to be carried forward through the maternal line, thus, selection for gametes without an additional extra chromosome during oogensis can be postulated [for more details see also (12); for centromeric drive see (16)]. (ii) It has also been suggested that any kind of chromosomal aberration can reduce the ability of correct chromosomal pairing during meiosis I (1), which can cause fertility problems especially in males (17).…”

Section: Fertility Problems In Ssmc Carriers and Evolutionary Effectsmentioning

confidence: 87%

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Thirty-two new cases with small supernumerary marker chromosomes detected in connection with fertility problems: Detailed molecular cytogenetic characterization and review of the literature

Manvelyan

Riegel²,

Santos³

et al. 2008

Int J Mol Med

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Thirty-two patients with fertility problems were identified as carriers of small supernumerary marker chromosomes (sSMC). Molecular cytogenetic techniques were used to characterize their chromosomal origin. Together with the other cases available in the literature 111 sSMC cases have now been detected in connection with fertility problems in otherwise clinically healthy persons and characterized for their genetic content. According to this study, in 60% of the cases the sSMC originated from chromosomes 14 or 15. Euchromatic imbalances were caused by the sSMC presence in 30% of the cases. Notably, in 53% of infertile sSMC carriers, the sSMC was parentally transmitted. As we found indications of an as yet unknown mechanism for the elimination of sSMC from the human gene pool, sSMC could also play a role in elucidating the process of chromosome gain and loss during evolution. Nonetheless, further detailed molecular analysis will be necessary in the future to characterize the mechanisms and genetic basis for this phenomenon.Posted at the Zurich Open Repository and Archive, University of Zurich ZORA URL: https://doi.org/10.5167/uzh-57505 Originally published at: Manvelyan, Marina; Riegel, Mariluce; Santos, Monica; Fuster, Carme; Pellestor, Franck; Mazaurik, Marie-Luise; Schulze, Bernt; Polityko, Anna; Tittelbach, Hanne; Reising-Ackermann, Gisela; Belitz, Britta; Hehr, Ute; Kelbova, Christina; Volleth, Marianne; Gödde, Elisabeth; Anderson, Jasen; Küpferling, Peter; Köhler, Sigrid; Duba, Hans-Christoph; Dufke, Andreas; Aktas, Dilek; Martin, Thomas; Schreyer, Isolde; Ewers, Elisabeth; Reich, Daniela; Mrasek, Kristin; Weise, Anja; Liehr, Thomas (2008). Thirty-two new cases with small supernumerary marker chromosomes detected in connection with fertility problems: detailed molecular cytogenetic characterization and review of the literature. International Journal of Molecular Medicine, 21(6):705-714.Abstract. Thirty-two patients with fertility problems were identified as carriers of small supernumerary marker chromosomes (sSMC). Molecular cytogenetic techniques were used to characterize their chromosomal origin. Together with the other cases available in the literature 111 sSMC cases have now been detected in connection with fertility problems in otherwise clinically healthy persons and characterized for their genetic content. According to this study, in 60% of the cases the sSMC originated from chromosomes 14 or 15. Euchromatic imbalances were caused by the sSMC presence in 30% of the cases. Notably, in 53% of infertile sSMC carriers, the sSMC was parentally transmitted. As we found indications of an as yet unknown mechanism for the elimination of sSMC from the human gene pool, sSMC could also play a role in elucidating the process of chromosome gain and loss during evolution. Nonetheless, further detailed molecular analysis will be necessary in the future to characterize the mechanisms and genetic basis for this phenomenon.

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Section: Discussionsupporting

confidence: 63%

Section: Discussionmentioning

confidence: 59%

Section: Fertility Problems In Ssmc Carriers and Evolutionary Effectsmentioning

confidence: 87%

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Thirty-two new cases with small supernumerary marker chromosomes detected in connection with fertility problems: Detailed molecular cytogenetic characterization and review of the literature

Manvelyan

Riegel²,

Santos³

et al. 2008

Int J Mol Med

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“…Some reports show that familial sSMCs are predominantly inherited via the maternal line (Warburton, 1991;Liehr, 2006;Manvelyan et al, 2008). Liehr (2006) suggested that a yet unknown effect is driving selection via the fertilization success of sperm without an sSMC.…”

Section: Discussionmentioning

confidence: 99%

“…Chromosomes were examined by GTG banding, and metaphases were karyotyped on a microscope equipped with a CCD camera and an image analysis system (MetaSystems, Altlussheim, Germany). We analyzed a total of 50 cells in each subject to exclude any subtle mosaicism for sSMCs (Liehr, 2006). The karyotypic descriptions were reported according to the International System for Human Cytogenetic Nomenclature recommendations (ISCN, 1995).…”

Section: Case Reportmentioning

confidence: 99%

Case Report A small supernumerary marker chromosome, derived from chromosome 22, possibly associated with repeated spontaneous abortions

Balkan¹,

Isi²,

Gedik³

et al. 2010

Genet. Mol. Res.

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ABSTRACT. We report a phenotypically normal couple with repeated spontaneous abortions and without other clinical features. Clinical, hematological, biochemical, and endocrinological aspects of the couple did not reveal any abnormalities. The karyotype of the wife was normal (46,XX), while the husband was found to have an abnormal karyotype, 47,XY,+der(22)mat. The marker chromosome was familial and non-satellite. Although the potential risk of small supernumerary marker chromosomes for spontaneous abortions cannot be defined precisely, marker chromosomes, together with methods used for ascertainment, are also factors to be considered when investigating infertility consequences. Furthermore, identification of the origin of a marker chromosome may provide additional information for patient karyotype-phenotype correlations. Further studies, such as molecular analyses to identify the breakpoint, are necessary for investigating phenotype-genotype correlations and assessment of genetic risks for small secondary chromosomes. The cause of repeated spontaneous abortions in this couple might be the presence of this marker chromosome in the husband. Consequently, we recommended genetic counseling before further pregnancies.

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Cat eye syndrome: Clinical, cytogenetics and familial findings in a large cohort of 43 patients highlighting the importance of congenital heart disease and inherited cases

Jedraszak,

Jobic,

Receveur

et al. 2023

American J of Med Genetics Pt A

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Cat Eye Syndrome (CES) is a rare genetic disease caused by the presence of a small supernumerary marker chromosome derived from chromosome 22, which results in a partial tetrasomy of 22p‐22q11.21. CES is classically defined by association of iris coloboma, anal atresia, and preauricular tags or pits, with high clinical and genetic heterogeneity. We conducted an international retrospective study of patients carrying genomic gain in the 22q11.21 chromosomal region upstream from LCR22‐A identified using FISH, MLPA, and/or array‐CGH. We report a cohort of 43 CES cases. We highlight that the clinical triad represents no more than 50% of cases. However, only 16% of CES patients presented with the three signs of the triad and 9% not present any of these three signs. We also highlight the importance of other impairments: cardiac anomalies are one of the major signs of CES (51% of cases), and high frequency of intellectual disability (47%). Ocular motility defects (45%), abdominal malformations (44%), ophthalmologic malformations (35%), and genitourinary tract defects (32%) are other frequent clinical features. We observed that sSMC is the most frequent chromosomal anomaly (91%) and we highlight the high prevalence of mosaic cases (40%) and the unexpectedly high prevalence of parental transmission of sSMC (23%). Most often, the transmitting parent has mild or absent features and carries the mosaic marker at a very low rate (<10%). These data allow us to better delineate the clinical phenotype associated with CES, which must be taken into account in the cytogenetic testing for this syndrome. These findings draw attention to the need for genetic counseling and the risk of recurrence.

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Familial small supernumerary marker chromosomes are predominantly inherited via the maternal line

Cited by 29 publications

References 8 publications

Thirty-two new cases with small supernumerary marker chromosomes detected in connection with fertility problems: Detailed molecular cytogenetic characterization and review of the literature

Thirty-two new cases with small supernumerary marker chromosomes detected in connection with fertility problems: Detailed molecular cytogenetic characterization and review of the literature

Case Report A small supernumerary marker chromosome, derived from chromosome 22, possibly associated with repeated spontaneous abortions

Cat eye syndrome: Clinical, cytogenetics and familial findings in a large cohort of 43 patients highlighting the importance of congenital heart disease and inherited cases

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