Case Report Identification of a de novo inv dup(X)(pter→ q22) by multicolor banding in a girl with Turner syndrome

Burégio-Frota, Pollyanna; Valença, Luciana Patrízia A. Andrade; Leal, Gabriela Ferraz; Duarte, Andréa R.; Bispo-Brito, A V S; Soares-Ventura, Eliane Maria; Marques-Salles, T.J.; Nogueira, M T M C; Muniz, Maria Tereza Cartaxo; Silva, M L M; Hunstig, Friederike; Liehr, Thomas; Santos, Neide

doi:10.4238/vol9-2gmr777

Cited by 5 publications

(5 citation statements)

References 14 publications

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“…Karyotypes can, but must not, be mosaics with a second cell line containing a normal or abnormal sex chromosome. Few cases present complex karyotypes including reciprocal translocations between autosomes and derivative X chromosomes (Burégio-Frota et al 2010;Elleuch et al 2010;Paramayuda et al 2012;Zhong and Layman 2012).…”

Section: Introductionmentioning

confidence: 99%

Y chromosome in Turner syndrome: detection of hidden mosaicism and the report of a rare X;Y translocation case

Bispo

Burégio-Frota

Santos

et al. 2014

Reprod. Fertil. Dev.

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Turner syndrome (TS) is a common genetic disorder in females associated with the absence of complete or parts of a second sex chromosome. In 5-12% of patients, mosaicism for a cell line with a normal or structurally abnormal Y chromosome is identified. The presence of Y-chromosome material is of medical importance because it results in an increased risk of developing gonadal tumours and virilisation. Molecular study and fluorescence in situ hybridisation approaches were used to study 74 Brazilian TS patients in order to determine the frequency of hidden Y-chromosome mosaicism, and to infer the potential risk of developing malignancies. Additionally, we describe one TS girl with a very uncommon karyotype 46,X,der(X)t(X;Y)(p22.3?2;q11.23) comprising a partial monosomy of Xp22.3?2 together with a partial monosomy of Yq11.23. The presence of cryptic Y-chromosome-specific sequences was detected in 2.7% of the cases. All patients with Y-chromosome-positive sequences showed normal female genitalia with no signs of virilisation. Indeed, the clinical data from Y-chromosome-positive patients was very similar to those with Y-negative results. Therefore, we recommend that the search for hidden Y-chromosome mosaicism should be carried out in all TS cases and not be limited to virilised patients or carriers of a specific karyotype.

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Section: Introductionmentioning

confidence: 99%

Y chromosome in Turner syndrome: detection of hidden mosaicism and the report of a rare X;Y translocation case

Bispo

Burégio-Frota

Santos

et al. 2014

Reprod. Fertil. Dev.

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“…Reports frequently describe female patients with different repeated segments and different abnormal clin-ical phenotypes (Volletha et al, 2001;Kokalj Vokac et al, 2002;Burégio-Frota et al, 2010). These data suggest that the distribution of X chromosomal duplications in males and females is different, and duplications on Xq may result in a less severe abnormal phenotype than those on Xp (Zhang et al, 1997;Carrel et al, 1999).…”

Section: Discussionmentioning

confidence: 98%

Birth of a healthy child by a woman with inherited Xq duplications who had experienced stillbirths

Dong¹,

Chen²,

Yu³

et al. 2014

Genet. Mol. Res.

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ABSTRACT.A 23-year-old woman who had experienced repeated stillbirths, was found to carry an additional segment on the long arm of the X chromosome. Array comparative genomic hybridization (aCGH) confirmed the origin of the 2 duplications (about 17.11 Mb). Thus, her karyotype was 46, X, dup (X) (q13.2-q21.1), dup(X) (q21.32-q22.1). We demonstrate that aCGH is a useful complementary tool to cytogenetic analysis for accurately determining banding. To our knowledge, this is the first case with normal apparently phenotype who inherited 2 duplications on Xq. Notably, after 2 stillbirths, she bore a healthy, normal female infant via natural pregnancy. Thus, a carrier of this karyotype can birth a phenotypically normal child.

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“…An increased number of X chromosomes has been shown to reduce the extent of ovarian failure and create a period of potential fertility ( 4 , 11 – 13 ). The patient in the present case study experienced normal menses for ~10 years, between the age of 13 and 23 years.…”

Section: Discussionmentioning

confidence: 99%

Concurrent insulinoma with mosaic Turner syndrome: A case report

Wang

Yang

et al. 2015

Experimental and Therapeutic Medicine

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Turner syndrome is a chromosomal abnormality in which the majority of patients have a 45XO karyotype, while a small number have a 45XO/47XXX karyotype. Congenital adrenal hyperplasia has been previously reported in patients with Turner syndrome. Although insulinomas are the most common type of functioning pancreatic neuroendocrine tumor and have been reported in patients with multiple endocrine neoplasias, the tumors have not been reported in patients with mosaic Turner syndrome. The present study reports the first case of an insulinoma in a patient with 45XO/47XXX mosaic Turner syndrome. The patient suffered from recurrent hypoglycemia, which was relieved following ingestion of glucose or food. A 5-h glucose tolerance test was performed and the levels of glucose, C-Peptide and insulin were detected. In addition, computed tomography (CT) and ultrasound scanning were performed to evaluate the possibility of an insulinoma. Pathological examination and karyotyping were performed on a surgical specimen and a whole blood sample, respectively. The patient was found to suffer from premature ovarian failure, and a physical examination was consistent with a diagnosis of Turner syndrome. An ultrasound scan demonstrated streak ovaries and the patient was found to have a 45XO/47XXX karyotype. Furthermore, a lesion was detected in the pancreas following CT scanning, which was identified as an insulinoma following surgical removal and histological examination. In conclusion, the present study reports the first case of an insulinoma in a patient with mosaic Turner syndrome. Since mosaic Turner syndrome and insulinoma are rare diseases, an association may exist that has not been previously identified.

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Case Report Identification of a de novo inv dup(X)(pter→ q22) by multicolor banding in a girl with Turner syndrome

Cited by 5 publications

References 14 publications

Y chromosome in Turner syndrome: detection of hidden mosaicism and the report of a rare X;Y translocation case

Y chromosome in Turner syndrome: detection of hidden mosaicism and the report of a rare X;Y translocation case

Birth of a healthy child by a woman with inherited Xq duplications who had experienced stillbirths

Concurrent insulinoma with mosaic Turner syndrome: A case report

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