Outcomes of Preimplantation Genetic Diagnosis Cycles by Fluorescent Hybridization of Infertile Males with Nonmosaic 47,XYY Syndrome / 中华医学杂志(英文版)

Background@#The 47,XYY syndrome could result in fertility problems. However, seldom studies reported comprehensive researches on the embryonic development and pregnancy outcomes of these patients. This study aimed to evaluate the clinical outcomes of nonmosaic 47,XYY patients performed with fluorescent in situ hybridization (FISH) and preimplantation genetic diagnosis (PGD) treatment.@*Methods@#This was a retrospective study. Between January 2012 and May 2017, 51 infertile males with nonmosaic 47,XYY syndrome underwent FISH-PGD were included in the study. According to sex chromosomal FISH results, embryos were classified as normal signal, no nuclei fixed, no signal in fixed nuclei, suspensive signal, and abnormal signal groups, respectively. The incidence of each group, the fixation rate, and hybridization rate were calculated. Embryonic development and pregnancy outcomes were also analyzed. The measurement data were analyzed with Student's t-test. The comparison of categorical data was analyzed with the Chi-square test and Fisher's exact test when expected cell count was 0.05), and were significantly lower than the normal signal group (66.4%, P < 0.001). The clinical pregnancy rates of fresh and frozen embryos transferred cycles were 70.6% and 85.7%, respectively.@*Conclusions@#Among embryos with a clear diagnosis of sex chromosome, about one-fifth showed abnormal signals. Embryos with two sex chromosomal signals are more likely to develop into good-quality ones. The application of the PGD by FISH may help to improve the clinical outcome s.

Esthesioneuroblastoma in a boy with 47, XYY karyotype / 소아과

Neuroblastomas are sometimes associated with abnormal constitutional karyotypes, but the XYY karyotype has been rarely described in neuroblastomas. Here, we report a case of an esthesioneuroblastoma in a boy with a 47, XYY karyotype. A 6-year-old boy was admitted to our hospital because of nasal obstruction and palpable cervical lymph node, which he first noticed several days previously. A polypoid mass in the right nasal cavity was detected through sinuscopy. Biopsy of the right nasal polyp was performed. Based on the result, the patient was diagnosed with a high-grade esthesioneuroblastoma. Nuclear imaging revealed increased uptake in both the right posterior nasal cavity and the right cervical IB-II space, suggesting metastatic lymph nodes. Cytogenetic analysis revealed a 47, XYY karyotype. Twelve courses of concurrent chemotherapy were administered. Three years after the completion of chemotherapy, the patient had had no disease recurrence. He manifested behavioral violence and temper tantrums, so we started methylphenidate for correction of the behavior.

XYY syndrome: a 13-year-old boy with tall stature

When evaluating the underlying causes of tall stature, it is important to differentiate pathologic tall stature from familial tall stature. Various pathologic conditions leading to adult tall stature include excess growth hormone secretion, Marfan syndrome, androgen or estrogen deficiency, testicular feminization, and sex chromosome anomaly, such as Klinefelter syndrome and XYY syndrome. Men with 47,XYY syndrome can exhibit multiple phenotypes. A 13-year-old boy visited the hospital for evaluation of tall stature. The boy had no other physical abnormalities except tall stature. All biochemical and imaging studies were within the normal ranges. He was diagnosed with XYY syndrome in this chromosome study. When evaluating men with tall stature, XYY syndrome should be ruled out.

Síndrome 47, XYY / 47, XYY Syndrome

A síndrome XYY é definida como uma aneuploidia de cromossomos sexuais, a qual o indivíduo recebe um cromossomo Y extra, apresentando cariótipo 47,XYY. A síndrome apresenta como características principais alta estatura na primeira infância, atraso na fala, dificuldade de leitura e concentração. A maioria dos homens XYY é fértil e não apresenta manifestações clínicas significativas e permanece sem diagnóstico O objetivo do presente trabalho é relatar o caso de um paciente de 12 anos afetado pela Síndrome 47,XYY.

XYY syndrome is defined as a sex chromosome aneuploidy, in which the individual receives an extra Y chromosome, presenting karyotype 47,XXY. The main features of the syndrome are tall stature in early childhood, delayed speech, and difficulty reading and concentrating. Most XYY males are fertile, show no significant clinical symptoms and remain undiagnosed. The aim of this study is to report the case of a 12-year-old patient affected by 47, XYY syndrome.

Aneuploidia dos cromossomos sexuais: casos raros ou subdiagnosticados? / Sex chromosome aneuploidies: rare or under diagnosed?

As aneuploidias dos cromossomos sexuais geralmente compartilham muitas características fenotípicas e achados neuropsicológicos, entre eles anomalias da genitália externa e retardo mental e contemplam a gama de diagnóstico diferencial de dois distúrbios frequentes na população, que são a síndrome do X-frágil e o autismo. Justifica-se, portanto, que o cariótipo seja o primeiro exame genético a ser solicitado em casos de malformações congênitas, distúrbios da diferenciação sexual, problemas comportamentais ou retardo mental. Descrevemos dois casos clínicos de crianças com as síndromes 47,XYY e mos 49,XXXXY/46,XY, com o objetivo de contribuir para a disseminação de informações acerca do fenótipo e diagnóstico de anomalias dos cromossomos sexuais...

Mosaic double aneuploidy: Down syndrome and XYY.

Chromosomal abnormalities are seen in nearly 1% of live born infants. We report a 5‑year‑old boy with the clinical features of Down syndrome, which is the most common human aneuploidy. Cytogenetic analysis showed a mosaicism for a double aneuploidy, Down syndrome and XYY. The karyotype was 47, XY,+21[19]/48, XYY,+21[6]. ish XYY (DXZ1 × 1, DYZ1 × 2). Mosaic double aneuploidies are very rare and features of only one of the aneuploidies may predominate in childhood. Cytogenetic analysis is recommended even if the typical features of a recognized aneuploidy are present so that any associated abnormality may be detected. This will enable early intervention to provide the adequate supportive care and management.

Talla alta, sindrome XYY: presentación de un caso / High -Class, XYY Syndrome: case report

Los niños y hombres con el síndrome 47 XYY tienen dos cromosomas Y en vez de uno. Esto significa que tienen 47 cromoso- mas en lugar de 46. El cromosoma adicional se obtuvo durante la formación del esperma que se juntó con el óvulo al formar el feto o durante el desarrollo temprano del feto, justo después de la concepción. El cromo - soma extra no puede ser removido nunca. El síndrome 47 XYY ocurre al azar. (1). Algunos médicos genetistas cuestionan si el uso del término «síndrome¼ es apropiado para ésta anomalía, porque el fenotipo es normal. (2). Las personas 47 XYY , presentan un aspecto físico normal, y se caracterizan por una estatura alta, que se hace más evidente en la adolescencia. (1, 2, 3)...(AU)

A new 48, XXYY/47, XYY syndrome associated with multiple skeletal abnormalities, congenital heart disease and mental retardation.

While the XYY and XXYY syndromes have been several time described in patients, the combination of both syndromes in an individual is a rare event and may result in a severe phenotype. In the present observation, a boy with congenital scoliosis due to segmented thoracic hemivertebra associated with radioulnar synostosis and congenital heart disease is described. Chromosome G-banding and FISH analysis demonstrated a de novo mosaic karyotype 48, XXYY/47, XYY in this patient. To the best of our knowledge, this is the first report of a combination of XYY and XXYY syndromes.

Application of WHO standards in diagnose and classification of MDS / 白血病·淋巴瘤

ObjectiveTo diagnose and classify 249 patients with myelodysplastic syndrome (MDS) according to the WHO standards.MethodsAccording to the WHO standards,cell morphology,cytogenetics,immune phenotype and bone marrow pathologic biopsy in 249 cases of MDS were analyzed.ResultsGreat shape and oval cell of mature erythrocyte could be observed in all MDS patients peripheral blood. The incidence of immature erythrocyte,immature granulocyte,pelger-like abnormal nucleus and neutrophils cells without granular increased with subtypes progressing.These abnormal characteristics and proportion tended to more apparent with MDS subtypes progressing.With the dynamic follow-up,we found the rate of MDS transition to AL increased with subtypes progressing(P＜0.05 ).The immune phenotype analysis of 148 patients was undertook and found that the trend to express myeloid specific antigen (CD33) increased gradually with subtypes progressing The chromosome inspection in 138 patients was undertook and found that 53 patients (38.7 ％ with abnormal karyotype,mainly in 20q- and +8;16 cases with complex abnormal karyotype (28 ％), two patients in 5q-. 180 patients were underwent bone marrow biopsy at the same time and found that 19 patients with abnormal morphology;42 patients with bone marrow fibrosis.ConclusionsCombining with multiple index to detect the MDS contributes to the classification and diagnosis more accuratcly and long-term follow-up helps to judgment the prognosis.

A Dispermic Chimera with Mixed Field Blood Group B and Mosaic 46,XY/47,XYY Karyotype

Chimerism in humans is a rare phenomenon often initially identified in the resolution of an ABO blood type discrepancy. We report a dispermic chimera who presented with mixed field in his B antigen typing that might have been mistaken for the B3 subtype. The propositus is a healthy Korean male blood donor. Neither his clinical history nor initial molecular investigation of his ABO gene explained his mixed field agglutination with murine anti-B. Chimerism was suspected, and 9 short tandem repeat (STR) loci were analyzed on DNA extracted from blood, buccal swabs, and hair from this donor and on DNA isolated from peripheral blood lymphocytes from his parents. The propositus' red blood cells demonstrated mixed field agglutination with anti-B. Exon 6 and 7 and flanking intronic regions of his ABO gene were sequenced and revealed an O01/O02 genotype. B allele haplotype-specific PCR, along with exon 6 and 7 cloning and sequencing demonstrated a third ABO allele, B101. Four STR loci demonstrated a pattern consistent with a double paternal chromosome contribution in the propositus, thus confirming chimerism. His karyotype revealed a mosaic pattern: 32/50 metaphases were 46,XY and 18/50 metaphases demonstrated 47,XYY.

A Case of Coincidental Gonadoblastoma and Dysgerminoma in 45X/47XYY Mosaic Turner Variant / 대한산부인과학회지

45X/47XYY mosaicism is a very rare sex chromosomal disorder with limited clinical information. We experienced an unusual mosaic syndrome in a 16-year old woman with a phenotypic female, short stature, and immature secondary sexual characteristics. We performed both gonadectomy and found a gonadoblastoma in one gonad and dysgerminoma in another gonad.

47,XYY male with increased nuchal fold thickness, choroid plexus cyst and limb anomaly: A case report / 대한산부인과학회지

47,XYY males are found in approximately 1 per 1,000 men. There is no significant difference in intelligence compared with a normal karyotype group. 47,XYY males are fertile and are considered to be relatively tall in stature owing to the increased growth velocity during the earliest childhood. It has been known that 47,XYY males are usually quite normally developed at birth with normal birth weight and length without any physical abnormalities. We have experienced a case of 47,XYY male with increased nuchal fold thickness, choroid plexus cyst and limb anomaly and we report the case with brief review of the literature. A 31-year-old woman, who had terminated her first pregnancy due to limb anomaly at 24 weeks gestation, received ultrasonography at about 16 weeks gestation and was found having a fetus with increased nuchal fold, choroid plexus cyst and limb anomaly. Through the genetic counselling, her pregnancy was terminated and the chromosome karyotyping was performed with the fetal tissue and parent's peripheral blood. The results revealed that the parents had normal karyotypes, but the karyotype of the fetus showed 47,XYY.

A Case of Normal Delivery of a Fetus with Prenatally Diagnosed 47,XYY,inv(9)(p11;q13) / 대한주산의학회잡지

A 35-year-old multigravida woman received triple marker screening tests in 16weeks 2days of gestation. MSAFP and MShCG values were increased, whereas MSuE3 value was decreased. So we performed amniocentesis for karyotyping and confirmed male fetus with 47,XYY,inv(9)(p11:q13). A neonatal survey showed the incidence of XYY male to be approximately 1:1000, the majority of cases are phenotypically normal. XYY males are taller than normal and show delayed mental development. A pericenteric inversion of chromosome 9 that extends from p11 to q13 is considered a normal chromosome variant, but the carrier is at high risk to produce abnormal offspring. As she did not want to terminate her pregnancy, she delivered vaginally in 39weeks 6days of gestation. As a result of physical examination, the neonate showed a normal phenotype. We report it with brief review.

A Case of Full Term Delivery of a Child with 47,XYY Subsequent to Prenatal Diagnosis at Midtrimester / 대한산부인과학회잡지

47,XYY is a rare sex chromosomal disorder. Approximately 1.45 per 1,000 live births have on XYY chromosome pattern. The extra Y chromosome is paternal in origin and RESULTS: from nondisjunction in the second meiotic division. Although the phenotype is normal on the newborn, an increased incidence of minor anomalies has been reported. Recently, a 37-year-old primigravid woman received amniocentesis at 17 weeks gestation at a private clinic and was diagnosed as having a fetus with 47,XYY. We performed amniocentesis again at 20 weeks of pregnancy and confirmed fetal karyotype to be 47,XYY using the conventional cytogenetics and fluorescence in situ hybridization (FISH) techniques. As she did not want to terminate her pregnancy, she was put under antenatal care but ended up in vaginal delivery in 40 weeks. As a result of physical examination, the neonate showed a normal phenotype except for a mild hypospadia and a simian crease.

A Case of Acute Myelogenous Leukemia with a 47,XYY Karyotype / 대한임상병리학회지

A 61 year-old male patient admitted with the complaint of chest pain. During the evaluation, immature cells were found on the peripheral blood smear. Bone marrow aspiration and biopsy were performed. Diagnosis of acute myelogenous leukemia(FAB classification, M2) was made. In the chromosome study using peripheral blood and bone marrow, 47,XYY karyotype was established. Acute myelogenous leukemia has rarely been diagnosed in patients with 47,XYY karyotype, and the effect of extra Y chromosome on oncogenesis is not clear. More studies are needed to be done to clear up the relation between XYY karyptype and leukemia.

45,X / 47,XYY Mosaic Turner Syndrome / 대한산부인과학회잡지

45,X/47,XYY mosaicism is a rare sex chromosomal disorder with clinical information limited to 25 cases in the literature. We report an unusual mosaic Turner syndrome case in a 35-year old Korean woman with a phenotypic female, primary amenorrhea, short stature, immature secondary sexual characteristics. Cytogenetic analysis including G- and Q-banding revealed 45,X/47,XYY mosaicism, and SRY gene was demonstrated by polymerase chain reaction(PCR). Prophylactic bilateral gonadectomy was performed because the presence of Y-chromosomal sequences in Turner stigmata may predispose this patient to gonadoblastoma formation.

A Case of 47XYY Syndrome with Azoospermia / 대한비뇨기과학회지

The XYY syndrome is a rare entity, which is a phenotypic man with a 47 XYY It was first reported by Sandberg and associates in 1961. The XYY individual is seldom detected during childhood or even in adult because the features of XYY syndrome are often subtle and not overtly suggestive of a chromosomal abnormalities. We have reported a case of XYY syndrome associated with absence of pubic and axillary hair, no voice mutation and azoospermia. Clinical, endocrinologic and genetic studies were presented and theories regarding the etiology of the XYY syndrome were discussed with review of the literature.