Report of a del22q11 in a patient with Mayer‐Rokitansky‐Küster‐Hauser (MRKH) anomaly and exclusion of WNT‐4, RAR‐gamma, and RXR‐alpha as major genes determining MRKH anomaly in a study of 25 affected women

Cheroki, Carola; Krepischi, Ana Cristina Victorino; Rosenberg, Carla; Jehee, Fernanda Sarquis; Mingroni-Netto, Regina Célia; Filho, Ivo Pavanello; Filho, Sebastião Marques Zanforlin; Kim, Chong; Bagnoli, Vicente Renato; Mendonça, Berenice Bilharinho; Szuhai, Károly; Otto, Paulo Alberto

doi:10.1002/ajmg.a.31254

Cited by 68 publications

(68 citation statements)

References 8 publications

(4 reference statements)

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“…Patient 5 was referred for mental retardation and psychotic disorder and, although schizophrenia is present in ϳ 20% of 22q11 deletion syndrome patients, this adult woman had nothing else on her medical records suggestive of the syndrome. Patient 7, who was described in detail elsewhere (Cheroki et al, 2006), was referred because of primary amenorrhea and urogenital abnormalities that were not among the described signs of VCFS/DGS. The detection of previously described imbalances in patients whose phenotypes are not strongly suggestive of associated syndromes is not too surprising when we consider that patients without the main features of a syndrome usually are not investigated for alterations in the candidate areas.…”

Section: Discussionmentioning

confidence: 99%

Whole-genome array-CGH screening in undiagnosed syndromic patients: old syndromes revisited and new alterations

Krepischi

Vianna‐Morgante

Jehee

et al. 2006

Cytogenet Genome Res

113

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We report array-CGH screening of 95 syndromic patients with normal G-banded karyotypes and at least one of the following features: mental retardation, heart defects, deafness, obesity, craniofacial dysmorphisms or urogenital tract malformations. Chromosome imbalances not previously detected in normal controls were found in 30 patients (31%) and at least 16 of them (17%) seem to be causally related to the abnormal phenotypes. Eight of the causative imbalances had not been described previously and pointed to new chromosome regions and candidate genes for specific phenotypes, including a connective tissue disease locus on 2p16.3, another for obesity on 7q22.1→q22.3, and a candidate gene for the 3q29 deletion syndrome manifestations. The other causative alterations had already been associated with well-defined phenotypes including Sotos syndrome, and the 1p36 and 22q11.21 microdeletion syndromes. However, the clinical features of these latter patients were either not typical or specific enough to allow diagnosis before detection of chromosome imbalances. For instance, three patients with overlapping deletions in 22q11.21 were ascertained through entirely different clinical features, i.e., heart defect, utero-vaginal aplasia, and mental retardation associated with psychotic disease. Our results demonstrate that ascertainment through whole-genome screening of syndromic patients by array-CGH leads not only to the description of new syndromes, but also to the recognition of a broader spectrum of features for already described syndromes. Furthermore, on the technical side, we have significantly reduced the amount of reagents used and costs involved in the array-CGH protocol, without evident reduction in efficiency, bringing the method more within reach of centers with limited budgets.

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Section: Discussionmentioning

confidence: 99%

Whole-genome array-CGH screening in undiagnosed syndromic patients: old syndromes revisited and new alterations

Krepischi

Vianna‐Morgante

Jehee

et al. 2006

Cytogenet Genome Res

113

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“…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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“…Наиболее часто CNV (Copy number variation -вид генетического полиморфизма, к которому отно-сят различия индивидуальных геномов по числу ко-пий хромосомных сегментов размером от одной ты-сячи до нескольких миллионов пар оснований) у па-циенток с аплазией матки и влагалища встречались в областях 1q21.1, 16р11.2, 17q1,2, 22q11.21 и Xq21.31, в частности, указывая на гены Lhx1, TCF2 и KLHL4 в качестве генов-кандидатов [49,50]. Причем эти дан-ные также могли быть основой для рекомендаций поиска мутаций в генах-кандидатах TCF2 и Lhx1 как при синдроме МРКХ типа I, так и при синдроме МРКХ типа II.…”

Section: современные цитогенетические и молекулярно-ге-нетические иссunclassified

Genetic aspects of vagina and the uterus aplasia: the history

Bobkova¹,

Baranova²,

Adamyan³

2015

Probl. reprod.

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Report of a del22q11 in a patient with Mayer‐Rokitansky‐Küster‐Hauser (MRKH) anomaly and exclusion of WNT‐4, RAR‐gamma, and RXR‐alpha as major genes determining MRKH anomaly in a study of 25 affected women

Cited by 68 publications

References 8 publications

Whole-genome array-CGH screening in undiagnosed syndromic patients: old syndromes revisited and new alterations

Whole-genome array-CGH screening in undiagnosed syndromic patients: old syndromes revisited and new alterations

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

Genetic aspects of vagina and the uterus aplasia: the history

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