Clinical management and molecular cytogenetic characterization in a 45,X/46,X,idic(Yp) patient with severe hypospadia

Marrocco, Giacinto; Poscente, Monica; Majore, Silvia; Bernardo, Carmelilia De; Rinaldi, Rosanna; Porto, G. Del; Storniello, G; Grammatico, Paola

doi:10.1016/s0022-3468(03)00284-7

Cited by 15 publications

(6 citation statements)

References 19 publications

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“…For follow-up in later life, see Müller et al 1999 [18]. In a recent study, Marrocco et al pointed out the necessity of collecting more cases of 45,X/46,XY mosaicism to precisely assess the risk of gonadoblastoma [14]. In conclusion, we presented a 2-week-old boy with undifferentiated right gonad and 45,X/46,X,dic(Y)-mosaicism.…”

Section: Chromosomal Analysismentioning

confidence: 65%

45,X/46,X,dic(Y)-Mosaicism in the Newborn

Bittmann¹,

Wieczorek²,

Stallmach³

et al. 2005

Klin Padiatr

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Section: Chromosomal Analysismentioning

confidence: 65%

45,X/46,X,dic(Y)-Mosaicism in the Newborn

Bittmann¹,

Wieczorek²,

Stallmach³

et al. 2005

Klin Padiatr

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“…Female patients carrying isodicentric Y material in the gonads are at great risk of gonadoblastoma, especially after puberty; thus, prophylactic gonadectomy is strongly recommended [65–67]. Foetuses showing ambiguous genitalia should be assigned a certain sex after a thorough evaluation of the genital anomalies [68]. Because patients carrying isodicentric Y chromosomes often present with complex manifestations, a long-term follow-up and clinical management are of great importance.…”

Section: Discussionmentioning

confidence: 99%

Clinical, cytogenetic, and molecular findings of isodicentric Y chromosomes

Yang

Wang

2019

Mol Cytogenet

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BackgroundIsodicentric Y chromosomes [idic(Y)] are one of the most common structural abnormalities of the Y chromosome. The prenatal diagnosis of isodicentric Y chromosomes is of vital importance, and the postnatal phenotypes vary widely. Therefore, we present six patients prenatally diagnosed with isodicentric Y chromosomes and review the literature concerning the genotype-phenotype correlations.MethodThe clinical materials of six patients were obtained. Cytogenetic and molecular approaches were carried out for these six patients.ResultsIsodicentric Y chromosomes were found in all sixpatients. Among them, four patients presented with a mosaic 45,X karyotype, one patient had a 46,XY cell line, and one patient was nonmosaic. Five of these six isodicentric Y chromosomes had a breakpoint in Yq11.2, and the other had a breakpoint in Yp11.3. The molecular analysis demonstrated different duplications and deletions of the Y chromosome. Finally, three patients chose to terminate the pregnancy, two patients gave birth to normal-appearing males, and one patient was lost to follow-up.ConclusionThe incorporation of multiple cytogenetic and molecular techniques would offer a more comprehensive understanding of this structural chromosomal abnormality for genetic counselling.

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“…Clinicians managing neonates with cryptorchidism and proximal hypospadias should have a high index of suspicion of an underlying DSD 11 . Once a DSD is identified, a series of investigations should be initiated with the aim of making a specific diagnosis 7 , 12 .…”

Section: Discussionmentioning

confidence: 99%