Recurrent aberrations identified by array-CGH in patients with Mayer-Rokitansky-Küster-Hauser syndrome

Ledig, Susanne; Schippert, Cordula; Strick, Reiner; Beckmann, Matthias W.; Oppelt, Patricia G.; Wieacker, Peter

doi:10.1016/j.fertnstert.2010.07.1062

Cited by 119 publications

(166 citation statements)

References 22 publications

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“…Maximal deletion in 1q21.1: 398.5 kb; 3,5 in 4q34-qter: 8 Mb; 8 in 8p23.1: 1.2 Mb; 7 in 10p14-15: 0.2 Mb; 7 in 16p11.2: 600 kb; 2 in 17q12: 1.5 Mb 2,3,5 and in 22q11.21: 3 Mb. 2,3,5,7,9,10 Maximal duplication in 1q21.1: 200 kb.…”

Section: Mutational Spectrummentioning

confidence: 98%

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Clinical utility gene card for: Mayer–Rokitansky–Küster–Hauser syndrome

et al. 2011

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Section: Mutational Spectrummentioning

confidence: 98%

“…2,3,5,7,9,10 Maximal duplication in 1q21.1: 200 kb. 3 Partial duplication of the Xpter pseudoautosomal region 1.…”

Section: Mutational Spectrummentioning

confidence: 99%

Clinical utility gene card for: Mayer–Rokitansky–Küster–Hauser syndrome

et al. 2011

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“…Microdeletions and microduplications of the distal 1q21.1 region have been linked with a variety of morbidities, including intellectual disability (ID), [2][3][4][5][6] autism, 2,6-9 schizophrenia, [10][11][12][13][14][15][16] microcephaly/macrocephaly, 2,6 congenital heart defects, [17][18][19][20] and renal and urinary tract anomalies 21 (Supplementary Table 1). Proximal 1q21.1 microdeletions are hypothesized to be a prerequisite for thrombocytopenia-absent radius (TAR) syndrome, 22 but otherwise proximal microdeletions and microduplications have been rarely reported, in cohorts of individuals with Mayer-Rokitansky-Küster-Hauser syndrome, 23 congenital heart defects, 24 and autism 25 (Supplementary Table 1). Both proximal and distal CNVs of 1q21.1 are reported in phenotypically affected individuals and apparently normal carriers.…”

Section: Introductionmentioning

confidence: 99%

Proximal microdeletions and microduplications of 1q21.1 contribute to variable abnormal phenotypes

et al. 2012

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Chromosomal band 1q21.1 can be divided into two distinct regions, proximal and distal, based on segmental duplications that mediate recurrent rearrangements. Microdeletions and microduplications of the distal region within 1q21.1, which are susceptibility factors for a variety of neurodevelopmental phenotypes, have been more extensively studied than proximal microdeletions and microduplications. Proximal microdeletions are known as a susceptibility factor for thrombocytopenia-absent radius (TAR) syndrome, but it is unclear if these proximal microdeletions have other phenotypic consequences. Therefore, to elucidate the clinical significance of rearrangements of the proximal 1q21.1 region, we evaluated the phenotypes in patients identified with 1q21.1 rearrangements after referral for clinical microarray testing. We report clinical information for 55 probands with copy number variations (CNVs) involving proximal 1q21.1: 22 microdeletions and 20 reciprocal microduplications limited to proximal 1q21.1 and 13 microdeletions that include both the proximal and distal regions. Six individuals with proximal microdeletions have TAR syndrome. Three individuals with proximal microdeletions and two individuals with larger microdeletions of proximal and distal 1q21.1 have a 'partial' TAR phenotype. Furthermore, one subject with TAR syndrome has a smaller, atypical deletion, narrowing the critical deletion region for the syndrome. Otherwise, phenotypic features varied among individuals with these microdeletions and microduplications. The recurrent, proximal 1q21.1 microduplications are enriched in our population undergoing genetic testing compared with control populations. Therefore, CNVs in proximal 1q21.1 can be a contributing factor for the development of abnormal phenotypes in some carriers

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“…Unfortunately, detailed screening for mutations of some genes in MRKH patients initially failed to identify any consistent alteration which could be regarded as causative (Bernardini et al, 2009). Subsequent work (Ledig et al, 2011) found three regions (1q21.1, 17q12, and 22q11.21) of particular interest, suggesting that deletions and/or missense mutations in LHX1 and HNF1B are also strong gene candidates in MRKH.…”

Section: Pgs and Mrkh: Unanswered Questionsmentioning

confidence: 99%

Gestational surrogacy and the role of routine embryo screening: Current challenges and future directions for preimplantation genetic testing

Sills

Anderson

McCaffrey³

et al. 2015

Birth Defects Research Pt C

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Preimplantation genetic screening (PGS) is a component of IVF entailing selection of an embryo for transfer on the basis of chromosomal normalcy. If PGS were integrated with single embryo transfer (SET) in a surrogacy setting, this approach could improve pregnancy rates, minimize miscarriage risk, and limit multiple gestations. Even without PGS, pregnancy rates for IVF surrogacy cases are generally satisfactory, especially when treatment utilizes embryos derived from young oocytes and transferred to a healthy surrogate. However, there could be a more general role for PGS in surrogacy, since background aneuploidy in embryos remains a major factor driving implantation failure and miscarriage for all infertility patients. At present, the proportion of IVF cases involving GS is limited, while the number of IVF patients requesting PGS appears to be increasing. In this report, the relevance of PGS for surrogacy in the rapidly changing field of assisted fertility medicine is discussed.Birth Defects Research (Part C) 108:98-102, 2016.V C 2015 Wiley Periodicals, Inc.

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Recurrent aberrations identified by array-CGH in patients with Mayer-Rokitansky-Küster-Hauser syndrome

Cited by 119 publications

References 22 publications

Clinical utility gene card for: Mayer–Rokitansky–Küster–Hauser syndrome

Clinical utility gene card for: Mayer–Rokitansky–Küster–Hauser syndrome

Proximal microdeletions and microduplications of 1q21.1 contribute to variable abnormal phenotypes

Gestational surrogacy and the role of routine embryo screening: Current challenges and future directions for preimplantation genetic testing

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