Chromosome abnormalities in Indonesian patients with short stature

Paramayuda, Chrysantine; Kartapradja, Hannie; Ambarwati, Debby D; Anggaratri, Helena W; Suciati, Lita P; Marzuki, Nanis S.; Harahap, Alida Roswita

doi:10.1186/1755-8166-5-35

Cited by 7 publications

(7 citation statements)

References 28 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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“…Furthermore, the chromosomal analysis showed RCII of 4–28% in these eight patients, which indicated ring chromosome instability in all these patients of r(9). The dynamic mosaicism and the relevant clinical features of growth and developmental delay, mild to severe intellectual disability, and microcephaly were regarded as “ring syndrome” (Kosztolányi, 1987, Paramayuda et al, 2012) and likely contributed to phenotypic variations of these r(9) patients. The azoospermia with small testes in the r(9) patient of the Laursen et al (2015) was probably attributed to the instable ring in meiosis as the patient was a 30‐year‐old healthy male with only a 435 kb cryptic deletion in 9pter of the r(9).…”

Section: Discussionmentioning

confidence: 99%

“…Furthermore, the chromosomal analysis showed RCII of 4-28% in these eight patients, which indicated ring chromosome instability in all these patients of r(9). The dynamic mosaicism and the relevant clinical features of growth and developmental delay, mild to severe intellectual disability, and microcephaly were regarded as "ring syndrome" (Kosztolányi, 1987, Paramayuda et al, 2012…”

Section: F I G U R E 2 a Diagrammentioning

confidence: 99%

Ring chromosome formation by intra‐strand repairing of subtelomeric double stand breaks and clinico‐cytogenomic correlations for ring chromosome 9

Chai

Wen

et al. 2020

American J of Med Genetics Pt A

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Constitutional ring chromosome 9, r(9), is a rare chromosomal disorder. Cytogenomic analyses by karyotyping, array comparative genomic hybridization (aCGH) and whole genome sequencing (WGS) were performed in a patient of r(9). Karyotyping detected a mosaic pattern of r(9) and monosomy 9 in 83% and 17% of cells, respectively. aCGH detected subtelomeric deletions of 407 kb at 9p24.3 and 884 kb at 9q34.3 and an interstitial duplication of 5.879 Mb at 9q33.2q34.11. WGS revealed double strand breaks (DSBs) at ends of 9p24.3 and 9q34.3, inverted repeats at ends of subtelomeric and 9q33.2q34.11 regions, and microhomology sequences at the junctions of this r(9). This is the first report of r(9) analyzed by WGS to delineate the mechanism of ring chromosome formation from repairing of subtelomeric DSBs. The loss of telomeres by subtelomeric DSBs triggered inverted repeats induced intra-strand foldback and then microhomology mediated synthesis and ligation, which resulted in the formation of this r(9) with distal deletions and an interstitial duplication. Review of literature found seven patients of r(9) with clinical and cytogenomic findings. These patients and the present patient were registered into the Human Ring Chromosome Registry and a map correlating critical regions and candidate genes with relevant phenotypes was constructed. Variable phenotypes of r(9) patients could be explained by critical regions and genes of DOCK8, DMRT, SMARCA2, CD274, IL33, PTPRD, CER1, FREM1 for 9p deletions, and the EHMT1 gene for 9q34 deletion syndrome. This interactive registry of r(9) could provide information for cytogenomic diagnosis, genetics counseling and clinical management. K E Y W O R D S clinical and cytogenomic findings, double stand breaks repairing, mechanism of ring chromosome formation, ring chromosome 9, whole genome sequencing 1 | INTRODUCTION Constitutional ring chromosomes which can involve any one of the 22 autosomes and sex chromosomes occur in about 1/50,000 newborns (Kosztolányi, 1987). Ring chromosomes arise typically from the breakage and subsequent fusion of both chromosome arms. Based on the integrity of genetic material, there are two types of ring chromosomes. One type is a complete ring resulting from subtelomeric fusion without any significant loss of genetic material, and the other type of incomplete ring shows distal or interstitial deletions and

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“…Therefore, despite having a normal penis size, the patient can be infertile. Hormone therapy can be started if clinical and laboratory examination show symptoms and signs of androgen deficiency (Vorona et al 2007, Warne et al 2005, Paramayuda et al 2012.…”

Section: Discussionmentioning

confidence: 99%

“…The patient with 46,XX testicular DSD had lower body size. This may occur during puberty and young adulthood due to hormonal influence (Vorona et al 2007, Warne et al 2005, Paramayuda et al 2012.…”

Section: Discussionmentioning

confidence: 99%

Case Report: Medical Aspect, Growth, and Quality of Life in Children with 46,XX Testicular Disorder of Sex Development (DSD)

Rochmah

Faizi

Andriani

et al. 2018

FMI

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46,XX testicular disorder of sexual development (DSD) is characterized by male phenotype with 46,XX karyotype. The incidence rate is 1:25,000 in male newborn. Infants with ambiguous external genitals will be confronted with issue of gender assigment and may result in a stressful condition in the parents. Since gender assignment is inevitable, several factors should be considered in DSD management. The management approach for children born with DSD is individualized and multidisciplinary. Gender assignment aims to facilitate the patient to obtain the best quality of life. Adaptation of children with 46,XX testicular DSD as a determinant of quality of life is also influenced by psychological and family conditions. The purpose of this report was to observe medical growth and development aspects of the child with 46,XX terticular DSD as indicated by the aspects of growth and development, and health related quality of life, as well as the influential aspects. PA, 18 months, was diagnosed with 46,XX testicular DSD. The patient routinely visited to endocrinology clinic, urologic surgery, and child psychiatry clinic from the age of 6 months. The parents decided to raise patient as male. The patient had undergone surgery for hypospadias correction, hormone injections, child growth monitoring, and psychological monitoring (medical records of Dr. Soetomo Hospital, Surabaya in 2015). Management should consider individual and multidiciplinary accompaniment of the patient and parents, the importance of group support, and follow-up to adulthood, as well as possible longterm outcomes that will occur in the future so that the patients and the parents need to be prepared.

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Chromosome abnormalities in Indonesian patients with short stature

Cited by 7 publications

References 28 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

Ring chromosome formation by intra‐strand repairing of subtelomeric double stand breaks and clinico‐cytogenomic correlations for ring chromosome 9

Case Report: Medical Aspect, Growth, and Quality of Life in Children with 46,XX Testicular Disorder of Sex Development (DSD)

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