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Feng Suo, Chuangxia Wang, Tianya Liu, Yuan Fang, Qin Wu, Maosheng Gu, Lingshan Gou
BACKGROUND: Cell-free fetal DNA are widely used in the prenatal genetic testing during recent years. In the present study, we tried to investigate the clinical practical feasibility of non-invasive prenatal testing (NIPT) for prenatal sex chromosome aneuploidy (SCA) analysis among pregnancies in Xuzhou area of China. METHODS: Among a cohort of 8384 pregnancies, maternal plasma samples from our prenatal diagnosis center was subject to the analysis for SCA using NIPT detection...
June 2018: Clinica Chimica Acta; International Journal of Clinical Chemistry
Seppo Taskinen, Riikka Järvinen, Maija Kolehmainen, Jukka Sairanen
No abstract text is available yet for this article.
December 2017: Scandinavian Journal of Urology
Erik Clasen-Linde, Kolja Kvist, Dina Cortes, Jorgen Thorup
OBJECTIVE: Intratubular germ cell neoplasia (ITGCN) is a precursor to testicular germ cell cancer. Adult germ cell cancer immunohistochemical markers fail to detect ITGCN in prepubertal boys with congenital cryptorchidism, because positive immunohistochemistry is commonly seen below 18 months old, where most orchiopexies are performed. The aim of the study was to evaluate the ability of Oct3/4 and D2-40 immunohistochemical markers to detect ITGCN in boys older than 2 years with cryptorchidism...
2016: Scandinavian Journal of Urology
David S Hong, Fumiko Hoeft, Matthew J Marzelli, Jean-Francois Lepage, David Roeltgen, Judith Ross, Allan L Reiss
Studies of sex effects on neurodevelopment have traditionally focused on animal models investigating hormonal influences on brain anatomy. However, more recent evidence suggests that sex chromosomes may also have direct upstream effects that act independently of hormones. Sex chromosome aneuploidies provide ideal models to examine this framework in humans, including Turner syndrome (TS), where females are missing one X-chromosome (45X), and Klinefelter syndrome (KS), where males have an additional X-chromosome (47XXY)...
March 5, 2014: Journal of Neuroscience: the Official Journal of the Society for Neuroscience
M Hofmann, P G Schlegel, F Hippert, P Schmidt, D von-Schweinitz, I Leuschner, U Göbel, G Calaminus, D T Schneider
BACKGROUND: In children and adolescents, testicular sex cord stromal tumors (TSCSTs) are rare. There is only limited information available regarding their clinical presentation, biology, and prognosis. METHODS: Between 1993 and 2009, 42 patients were prospectively reported to the cooperative MAHO and MAKEI studies on childhood germ cell tumors. Based on standardized documentation, data on epidemiology, clinical presentation, diagnostic features, histopathological differentiation, therapy, and follow-up were evaluated...
October 2013: Pediatric Blood & Cancer
Z Teliarova, L Baqi, Z Misikova, M Pura, P Jackuliak, J Payer
There are two forms of gonadal dysgenesis - mixed and pure. In the mixed form, some differentiated gonads as well as some either ovarian or testicular rudiments are present. This form results in a number of phenotypes with a possibility of malignant transformation. In the pure form occurring in female gender, also some rudimental gonads are bilaterally present. In the case of simultaneous presence of Y chromosome, also some malignant transformation may appear (Siklar et al. 2007). Chromosomal aberrations are present in 2-7 % adult pairs with fertility disorders and in 0...
October 2011: Endocrine Regulations
Ajay Anand, Narmada P Gupta, M K Singh, Sandeep R Mathur, Rishi Nayyar
Mixed gonadal dysgenesis (MGD) presents as a unilateral testis, usually intraabdominal, a streak gonad on contralateral side, and persistent mullerian structures. 45X/45XY karyotype is most frequent in such cases with predominance of 45X cells in both peripheral lymphocytes and gonads. We present a rare case of a left undescended testis, normally descended right testis, with penoscrotal hypospadias, who had a normal karyotype and whose histopathological findings were endometrial tissue and fallopian tube in left testicular biopsy...
April 2010: Indian Journal of Pathology & Microbiology
Abdullah Bereket, Serap Turan, Nursel Elçioğlu, Seniha Hacihanefioğlu, Nihal Memioğlu, Firdevs Baş, Rüveyde Bundak, Feyza Darendeliler, Hülya Günöz, Nurçin Saka, Oya Ercan, Ilknur Arslanoğlu, Pinar Işgüven, Metin Yildiz, Sule Can, Ebru Ozerkan, Mahmut Coker, Sükran Darcan, Behzat Ozkan, Zerrin Orbak, Sitki Oztaş, Sükrü Palandüz, Ilhan Sezgin, Emre Atabek, Ibrahim Erkul, Gürbüz Erdoğan
Spontaneous adult height (AH) in Turner syndrome (TS) varies among populations. Population-specific AH data is essential to assess the efficacy of growth-promoting therapies in TS. A multicenter study was performed to establish AH of nongrowth hormone (GH)-treated Turkish patients with TS. One hundred ten patients with TS (diagnosed by karyotype) who reached AH (no growth in the previous year, or bone age > 15 years) without receiving GH treatment were included in the study. The average AH was found to be 141...
September 2008: Turkish Journal of Pediatrics
Gianluca Marucci, Andrea Barbanera, Anna Lisa Tosi, Alvaro Andreoli, Luigi Simonetti, Elisabetta Magrini, Anna Farnedi, Maria Pia Foschini
A case of epithelioid hemangioendothelioma of the cauda equina is reported. The patient presented with rapidly worsening low back pain. Magnetic resonance imaging revealed a sharply demarcated intradural lumbar lesion. A bluish-red lesion, attached to the filum terminale, was removed. The patient is alive without evidence of recurrence 18 months after surgery. The tumor was composed of variously sized vessels lined by epithelioid endothelial cells with clear cytoplasm and centrally located, moderately atypical nuclei...
October 2006: International Journal of Surgical Pathology
Alka Kriplani, Nutan Agarwal, Parul, Meharchand C Sharma, Ranjit Manchanda
A wide spectrum of phenotypic manifestations are seen in cases with 45X/46XY mosaicism. We present a case with 45X/46XY having female phenotype with Turner's stigmata. Prophylactic laparoscopic gonadectomy was performed and the patient was found to have mixed gonadal dysgenesis with bilateral gonadoblastomas. Microinvasive seminomas were also detected in both gonadoblastomas. The presence of Y cell line in karyotype prompted early and prophylactic gonadectomy, a procedure which is life-saving for these individuals...
April 2003: Journal of Obstetrics and Gynaecology Research
Philippos C Patsalis, Carolina Sismani, Lluis Quintana-Murci, Fatima Taleb-Bekkouche, Csilla Krausz, Ken McElreavey
Deletions of specific regions on the Y chromosome cause male infertility. Recent advances in infertility treatment allow Y chromosome deletions to be transmitted to male offspring with the assumption that there will be no clinical consequences other than infertility in adult life. We screened 12 patients, who had a 45X/46XY karyotype and presented with Turner stigmata or sexual ambiguities, or both, for Y chromosome microdeletions with PCR. A third of these patients had Y chromosome microdeletions of distal Yq, the most common microdeletion seen in infertile men with azoospermia or severe oligozoospermia...
October 19, 2002: Lancet
T F Kolon, C L Gray, P G Borboroglu
An infant born at 38 weeks' gestation with ambiguous genitalia had a prenatal 45X karyotype but an enlarged phallus on an ultrasound scan at 31 weeks' gestation. The newborn examination demonstrated penoscrotal hypospadias with chordee and two gonads palpable in the scrotum with a right hydrocele. Ultrasound showed a saccular structure containing debris behind the bladder. The postnatal karyotype was revealed to be 45X/46XY, with a pseudodicentric Y chromosome. Cystoscopy/genitography identified a uterus and a right fallopian tube, which were removed along with a dysgenetic right gonad...
December 1999: Urology
F Calabrese, M Valente
Mixed gonadal dysgenesis (MGD) is an intersex genetic abnormality characterized by a streak gonad and a contralateral testis (that is typically cryptorchid) or bilateral streak testes. A uterus and one or both fallopian tubes also may be present. The external genitalia are frequently ambiguous. We studied two phenotypic "females" with MGD. One had a mosaic 45X (40%) and 46XYq (60%) karyotype, a left streak gonad, and a small testis in a right inguinal hernia, whereas the other had a 46XY karyotype, a left streak gonad, and, on the right, a testis with gonadoblastoma...
July 1996: International Journal of Gynecological Pathology
M Hourtane, M F Leheuzey
BACKGROUND: Gender identity is influenced by genetic and hormonal factors and also by the sex of rearing. CASE REPORT: A child was born with ambiguous genitalia. Male sex assignment was made. Hypospadias and left inguinal hernia were present. The hernial sac contained an ovarian tissue. Plasma testosterone, 17-OH progesterone, cortisone levels were normal as were basal FSH and LH levels. There was a vagina but no uterus. The karyotype showed 45X/46XY mosaicism. The testis in the right scrotum was removed and vulvoplasty was performed at the age of 10 months; the patient was than raised as a female...
July 1994: Archives de Pédiatrie: Organe Officiel de la Sociéte Française de Pédiatrie
L Aubert, C Verdet, F Giraud, J F Mattei
A chromosome make-up of 45X/46XY can be associated with gonadal dysgenesis, partial dwarfism and Turner-like congenital abnormalities according to Simpson's terminology, as can pure 45X. The Turner syndrome in the form of X/XY is rare. There is a double interest in the case that we report apart from its rarity; first because it has been possible to show lack fluorescence of the Y chromosome which can occur in the pathogenesis of clinical manifestations, when a third clone exists as an addition together with a ring chromosome Y...
1981: Journal de Gynécologie, Obstétrique et Biologie de la Reproduction
J Suzuki, S Taniguchi
No abstract text is available yet for this article.
June 1983: Horumon to Rinsho. Clinical Endocrinology
D H Redford, M B McNay, M E Ferguson-Smith, M E Jamieson
During one year, five second trimester fetuses with cystic hygromata and varying degrees of oedema presented to the authors from hospitals in the West of Scotland. Two fetuses had 45X karyotypes, one each had 47XY + 21 and 47XX + 18 karyotypes, and the fifth had a normal 46XY karyotype. Fetal oedema detectable by ultrasound, affecting particularly the back of the neck, may be a commoner manifestation of several aneuploid syndromes than has hitherto been recognized.
September 1984: Prenatal Diagnosis
F Bayard, J P Louvet, J Salanova, C Boulard
No abstract text is available yet for this article.
1972: Marseille Médical
S Smidt-Jensen, A M Lind
The advantages of the emergence and development of chorionic villi sampling (CVS) for early prenatal diagnosis are evident, but there are a host of new diagnostic problems caused by the use of extraembryonic tissues. We report a case in which 45X/46XY mosaicism was diagnosed by cultivation of chorionic villi and fetal cells. Direct chromosomal preparations of chorionic villi failed to diagnose the abnormality.
August 1987: Clinical Genetics
J C Lambert, M Donzeau, A M Saunieres
No abstract text is available yet for this article.
December 1987: Bulletin de L'Association des Anatomistes
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