46,XY/47,XYY/48,XYYY karyotype in a 3‐year‐old boy ascertained because of radioulnar synostosis

James, Con; Robson, Lisa; Jackson, Julianne; Smith, Arabella

doi:10.1002/ajmg.1320560408

Cited by 11 publications

(3 citation statements)

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“…The XYYY pattern is mostly observed with a mosaic pattern of XYY, XY and/or X, [6][7][8][9][10][11][12][13][14][15][16][17][18] and can also be seen as a single clone. Out of 15 cases, a mosaic pattern is seen in 7 cases, and pure XYYY is seen in 8 cases (Tables 1 and 2).…”

Section: Discussionmentioning

confidence: 99%

48,XYYY: A Rare Case Report

Sabnis

Bhusare

2021

Balkan Journal of Medical Genetics

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A case study of a 4 year old child with hypospadias and cryptorchidism on the right side is presented. Combined analysis by Karyotype and FISH showed a mosaic pattern of 48, XYYY (73%); 47,XYY (7%); 46,XY (7%) and 45,X (13%). Apart from hypospadias and cryptorchidism there were no significant phenotypic changes observed. Inheritance of this clonal abnormality was ruled out as the karyotype patterns of the child's father and brother both showed a normal karyotype. For further management, genetic counseling, and the correction of hypospadias and the undescended testis were recommended.

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Section: Discussionmentioning

confidence: 99%

48,XYYY: A Rare Case Report

Sabnis

Bhusare

2021

Balkan Journal of Medical Genetics

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“…Recent literature on 40 affected males with 49XXXXY showed a high prevalence of musculoskeletal disorder where 75 % of them had radioulnar synostosis [ 27 ]. In addition, James et al [ 28 ] found a mosaic karyotype 46,XY/47,XYY/48,XYYY in a 3-year-old boy with bilateral radioulnar synostosis. Our patient with 47XXY/46XX with clinical features of Klinefelter and radioulnar synostosis adds further to the spectrum of mosaicism in variants of Klinefelter syndrome.…”

Section: Discussionmentioning

confidence: 99%

A rare 47 XXY/46 XX mosaicism with clinical features of Klinefelter syndrome

Nor

Jalaludin

2016

Int J Pediatr Endocrinol

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Background47 XXY/46 XX mosaicism with characteristics suggesting Klinefelter syndrome is very rare and at present, only seven cases have been reported in the literature.Case presentationWe report an Indian boy diagnosed as variant of Klinefelter syndrome with 47 XXY/46 XX mosaicism at age 12 years. He was noted to have right cryptorchidism and chordae at birth, but did not have surgery for these until age 3 years. During surgery, the right gonad was atrophic and removed. Histology revealed atrophic ovarian tissue. Pelvic ultrasound showed no Mullerian structures. There was however no clinical follow up and he was raised as a boy. At 12 years old he was re-evaluated because of parental concern about his ‘female’ body habitus. He was slightly overweight, had eunuchoid body habitus with mild gynaecomastia. The right scrotal sac was empty and a 2mls testis was present in the left scrotum. Penile length was 5.2 cm and width 2.0 cm. There was absent pubic or axillary hair. Pronation and supination of his upper limbs were reduced and x-ray of both elbow joints revealed bilateral radioulnar synostosis. The baseline laboratory data were LH < 0.1 mIU/ml, FSH 1.4 mIU/ml, testosterone 0.6 nmol/L with raised estradiol, 96 pmol/L. HCG stimulation test showed poor Leydig cell response. The karyotype based on 76 cells was 47 XXY[9]/46 XX[67] with SRY positive. Laparoscopic examination revealed no Mullerian structures.ConclusionInsisting on an adequate number of cells (at least 50) to be examined during karyotyping is important so as not to miss diagnosing mosaicism.

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“…CRUS may be an isolated condition, or it may be found with more than 65 nonaneuploid syndromes such as Apert, Poland, Carpenter, Crouzon, Antley Bixler, Saethre Chotzen, and Mandibulofacial Dysostosis (Rizzo et al ., ; Capra et al ., ; Linder et al ., ; Bhatt & Mehta, ; Panigrahi, ). CRUS has also been associated with sex chromosomal abnormalities, such as Klinefelter syndrome (XXY) (Mazauric‐Stüker et al ., ; James et al ., ; Syed & Quinton, ; Bhatt & Mehta, ). In addition, CRUS has been linked to Fetal Alcohol Syndrome (Burd & Martsolf, ).…”

Section: Differential Diagnosismentioning

confidence: 99%

A Case of Congenital Radioulnar Synostosis from Prehispanic Peru

Titelbaum

Verano

2013

Int. J. Osteoarchaeol.

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A rare example of congenital radioulnar synostosis was observed in a sample of 160 male, female, and juvenile Lambayeque (Sicán) skeletons excavated from Huaca Cao Viejo, a mud brick platform mound built during the Early Intermediate Period and later utilized by a Late Intermediate Period Lambayeque population (ca. AD 950-1250) for interments. The affected individual was a young female, estimated to be 16-18 years of age at the time of death. To date, this is the first case of congenital radioulnar synostosis to be described from an archaeological context in South America, and one of 13 reported archaeological cases worldwide.

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46,XY/47,XYY/48,XYYY karyotype in a 3‐year‐old boy ascertained because of radioulnar synostosis

Cited by 11 publications

References 10 publications

48,XYYY: A Rare Case Report

48,XYYY: A Rare Case Report

A rare 47 XXY/46 XX mosaicism with clinical features of Klinefelter syndrome

A Case of Congenital Radioulnar Synostosis from Prehispanic Peru

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