We present case reports and magnetic resonance imaging studies on 3 individuals with 49,XXXXY. All 3 patients exhibited varying degrees of volume loss and abnormalities in white matter. [open.library.emory.edu]

We report an infant male with 49, XXXXY syndrome presenting with ambiguous genitalia and multiple extra-gonadal anomalies. [ijournalhs.org]

The majority of Klinefelter men present with a 47, XXY karyotype. The "poly-X variant", with the 49,XXXXY karyotype is uncommon. [clinicaltrials.gov]

The classic clinical presentation of Klinefelter Syndrome is a triad of hypogonadism, mental retardation, and musculoskeletal anomalies. [bibliomed.org]

• Multiple Congenital Anomalies

  A 5-month-old boy had failure to thrive and multiple congenital anomalies including microcephaly, facial dysmorphism (hypertelorism, megacornea, cleft palate, and micrognathia), obvious heart murmur, umbilical hernia, microphallus, and mild clenched hands [ncbi.nlm.nih.gov]

  We hope to remind clinicians to arrange chromosomal analysis if multiple congenital anomalies exist in a neonate. And remember to exclude congenital genitourinary tract anomaly if karyotype 49, XXXXY is diagnosed. [unboundmedicine.com]

  Article / Publication Details First-Page Preview Abstract A 21-month-old boy with multiple congenital anomalies was found to have 49 chromosomes with an XXXXY sex chromosome constitution. [karger.com]

• Poor Feeding

  In summary, we report on a case of neonatal diagnosis of 49,XXXXY syndrome based on IUGR, low birth weight, poor feeding, low pitch cry, dysmorphic feature, hypotonic, clinodactyly and genital abnormalities. [ijrm.ir]

• Tachypnea

  The diagnosis was Transient Tachypnea of the Newborn (TTN) and he was discharged after 7 days with good respiratory condition. He had IUGR and low birth weight (2400 gr). [ijrm.ir]

• Cardiomegaly

  Chest x-ray study showed mild cardiomegaly. Based on these findings, Klinefelter's syndrome, rare variant 49 XXXXY, was diagnosed. The patient was managed symptomatically and received gammaglobulin intramuscularly for six months. [annsaudimed.net]

  Chest X-ray showed cardiomegaly and two-dimensional echocardiography revealed patent ductus arteriosus (0.1–0.2 cm) [Figure 3]. Karyotype analysis by G-banding showed 49, XXXXY chromosomes at a band resolution of 500 [Figure 4]. [ijournalhs.org]

Workup in Klinefelter syndrome Klinefelter syndrome may be diagnosed prenatally from fetal cytogenetic analyses performed on chorionic villi or amniocytes. [emedicine.medscape.com]

Overview Many men are still diagnosed when, in the midst of leading normal lives, they have a karyotype or chromosome study as part of the workup for infertility. [medicalhomeportal.org]

• Thrombocytosis

  Hemoglobin levels were 10.2 g/dl; peripheral smear examination revealed dimorphic anemia with lymphocytosis and thrombocytosis. Serum creatinine was 0.4 mg%. [ijournalhs.org]

Management and treatment Management needs to be handled by a multidisciplinary team and includes the treatment of cardiac and skeletal defects, the monitoring of psychomotor development with physiotherapy, psychomotricity, speech therapy, orthopedic and [orpha.net]

Before taking any medication, always check with a qualified professional for healthcare information, treatment advice. [rarediseases.oscar.ncsu.edu]

Treatment The patient was treated with hormonal replacement therapy. [edm.bioscientifica.com]

Because the patient was hospitalized for a short period of time (the family asked to be discharged after 12 days of treatment), so there was a lack of further diagnostic tests and targeted treatments in this case. [journals.lww.com]

Prognosis Patients have an essentially normal life expectancy but will need to attend regular medical visits. The documents contained in this web site are presented for information purposes only. [orpha.net]

“The detection and monitoring of … mosaicism is important for early diagnosis, prognosis and evidence-based therapeutic interventions in brain diseases,” the scientists said. [rettsyndromenews.com]

The overall prognosis in our patient, considering the mental retardation and infertility, is poor. ARTICLE REFERENCES: 1. Smith WD. Recognisable pattern of human malformation, ed 3. Philadelphia: Saunders, 1982;64–66. 2. Kaplan SA. [annsaudimed.net]

The parents were counseled regarding the child's health and prognosis. The genital reconstruction was planned after the child was to be of 12 months of age. [ijournalhs.org]

The effects of testosterone as evidenced by of acne scars, nocturnal emissions, would point to the presence of mosaicism in our patient and is can help in predicting prognosis and the ability to father children. [e-ijd.org]

Etiology The etiology is the non disjunction of homologous chromosomes (during the first meiotic division) or of sister chromatids (during the second meiotic division) in the maternal germ cells. [orpha.net]

Males with XXXXY syndrome usually have small, thick necks. " Related Psychology Terms MENTAL RETARDATION (CAUSES) Piaget’s Theory of Cognitive Development SEXUAL DEVIATIONS (GENERAL) MENTAL RETARDATION (PREVENTION, CARE, AND TREATMENT) HOMOSEXUALITY (ETIOLOGY [psychologydictionary.org]

Their etiology is not precisely century with the first clinical recognition of known, so we have included chapters that dis symptoms and patterns for diagnosis of car cuss many aspects of congenital cardiac mal diovascular diseases. [books.google.com]

Low levels of testosterone are associated with elevated levels of plasminogen activator inhibitor (PAI)-1. [1] Lower limb ulcers are frequently observed and the etiology is thought to be multifactorial including chronic venous insufficiency, obesity, [e-ijd.org]

Etiology: three extra X chromosomes are responsible for the 49,XXXXY syndrome. 2. Mechanism a. All four X chromosomes are of maternal in origin. b. [link.springer.com]

Summary Epidemiology It has an annual incidence of 1/85,000 to 1/100,000 male births. [orpha.net]

Epidemiology It is the most common sex chromosome disorder, affecting 1 in 660 men. [ 3 ] Klinefelter's syndrome often goes undiagnosed in affected males. [patient.info]

To describe mortality in KS, we conducted an epidemiological study, using Danish registers covering the entire nation. [academic.oup.com]

Vol 2:New York, Academic Press, 1971 23 Patil SR, Lubs HA, Kimberling WJ et al: Chromosomal abnormalities ascertained in a collaborative survey of 4,342 seven and eight year old children: Frequency, phenotype and epidemiology. [glowm.com]

Epidemiology Approximately one in 1,000 boys is born with an additional X chromosome—47,XXY, the karyotype that causes Klinefelter syndrome. 1 This karyotype is detected at or before birth in 10 percent of affected boys, and it is found during adulthood [aafp.org]

These males also tend to exhibit more immature behavior for their chronological age; increased aggressive tendencies were also cited in this study.[6] Pathophysiology[edit] As its name indicates, a person with the syndrome has one Y chromosome and four [en.wikipedia.org]

Taxonomies · Therapeutic issues · Modes of delivery · Model translation project · Personal experiences · 49 XXXXY Syndrome is an extremely rare, aneuploidic sex chromosomal abnormality; its frequency is approximately 1 out of 85,000 to 100,000 males. [1] [2] Pathophysiology [psychology.wikia.com]

49, XXXXY syndrome Classification and external resources ICD-9 758.81 DiseasesDB 32552 49, XXXXY Syndrome is an extremely rare, aneuploidic sex chromosomal abnormality; its frequency is approximately 1 out of 85,000 to 100,000 males.[1][2] Pathophysiology [dictionnaire.sensagent.leparisien.fr]

XXXXY SYNDROME: "Males with XXXXY syndrome usually have small, thick necks. " Related Psychology Terms MENTAL RETARDATION (CAUSES) Piaget’s Theory of Cognitive Development SEXUAL DEVIATIONS (GENERAL) MENTAL RETARDATION (PREVENTION, CARE, AND TREATMENT [psychologydictionary.org]

Dental management of a patient with 49,XXXXY syndrome is important to accomplish both controlling behavioral problems and medical considerations for preventing infective endocarditis. [jstage.jst.go.jp]

During cell division, an error called non-disjunction prevents the X chromosomes from being normally distributed among the reproductive cells as they are formed. [ivami.com]

Early recognition and hormonal treatment of the disorder can substantially improve quality of life and prevent serious consequences. Testosterone replacement corrects symptoms of androgen deficiency but has no positive effect on infertility. [scienceopen.com]

During cell division, an error called nondisjunction prevents X chromosomes from being distributed among egg cells as they form. Typically, as cells divide, each egg cell gets a single X chromosome. [encyclopedia.pub]