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Jacques C Giltay, Aart J Klijn, Tom P V M de Jong, Peter Kats, Marjolijn van Breugel, Susan Lens, Martijn Vromans, Lars T van der Veken, Ron Hochstenbach
Tetraploid/diploid mosaicism is a rare chromosomal abnormality that is infrequently reported in patients with severe developmental delay, growth retardation, and short life span. Here, we present a 6-year-old patient with severe penoscrotal hypospadias and a coloboma of the left eye but with normal growth, normal psychomotor development, and without dysmorphisms. We considered a local, mosaic sex chromosomal aneuploidy as a possible cause of his genital anomaly and performed karyotyping in cultured fibroblasts from the genital skin, obtained during surgical correction...
July 2016: Molecular Syndromology
Tahir Atik, Özgür Çoğulu, Ferda Özkınay
48,XXYY syndrome is a rare sex chromosome abnormality. Although some physical features are similar to Klinefelter syndrome(47,XXY), 48,XXYY is typically associated with different neuropsyhciatric symptoms and phenotypic findings. Approximately 100 cases with 48,XXYY have been reported to date. In this report, a patient who was diagnosed with 48,XXYY syndrome with clincal evaluation and cytogenetic analysis is presented. A 6-year old male patient was hospitalized due to recurrent respiratory tract infections, recurrent abdominal distention and dyspepsia...
June 2016: Türk Pediatri Arşivi
Amr Tamimi, Heather E Bailey, Michael D Fayer
The dynamics of four 1-alkyl-3-methylimidazolium bis(trifluoromethylsulfonyl)imide room-temperature ionic liquids (RTILs) with carbon chain lengths of 2, 4, 6, and 10 were studied by measuring the orientational and spectral diffusion dynamics of the vibrational probe SeCN(-). Vibrational absorption spectra, two-dimensional infrared (2D IR), and polarization-selective pump-probe (PSPP) experiments were performed on the CN stretch. In addition, optical heterodyne-detected optical Kerr effect (OHD-OKE) experiments were performed on the bulk liquids...
August 4, 2016: Journal of Physical Chemistry. B
Paul Kirkpatrick Reardon, Liv Clasen, Jay N Giedd, Jonathan Blumenthal, Jason P Lerch, M Mallar Chakravarty, Armin Raznahan
Structural neuroimaging of humans with typical and atypical sex-chromosome complements has established the marked influence of both Yand X-/Y-chromosome dosage on total brain volume (TBV) and identified potential cortical substrates for the psychiatric phenotypes associated with sex-chromosome aneuploidy (SCA). Here, in a cohort of 354 humans with varying karyotypes (XX, XY, XXX, XXY, XYY, XXYY, XXXXY), we investigate sex and SCA effects on subcortical size and shape; focusing on the striatum, pallidum and thalamus...
February 24, 2016: Journal of Neuroscience: the Official Journal of the Society for Neuroscience
Amr Tamimi, Michael D Fayer
The room-temperature ionic liquid EmimNTf2 (1-ethyl-3-methylimidazolium bis(trifluoromethylsulfonyl)imide) was studied with two-dimensional infrared (2D IR) spectroscopy and polarization selective pump-probe (PSPP) experiments using low-concentration selenocyanate (SeCN(-)) as the vibrational probe. SeCN(-) was added as EmimSeCN, which keeps the cation the same. KSeCN was also used, so K(+) was added. Two 2D IR polarization configurations were employed: ⟨XXXX⟩ (all pulses have the same polarization) and ⟨XXYY⟩ (the first two pulse polarizations are perpendicular to that of the third pulse and the echo)...
July 7, 2016: Journal of Physical Chemistry. B
Sheng-Yuan Su, Ho-Yen Chueh, Ching-Pei Li, Yao-Lung Chang, Shuenn-Dyh Chang, Chih-Ping Chen
OBJECTIVE: To evaluate how interphase fluorescence in situ hybridization (FISH) played a role in genetic counseling when encountering prenatally detected fetal mosaicism cases. MATERIALS AND METHODS: We retrospectively reviewed 17 cases of amniotic fluid specimens diagnosed with Level III chromosome mosaicism using in situ coverslip culture method. Among them, seven received additional interphase FISH tests; five were related to autosomal mosaicism and two others were due to sex chromosomes...
October 2015: Taiwanese Journal of Obstetrics & Gynecology
Benjamin P Fingerhut, Shaul Mukamel
At the heart of photosynthesis is excitation energy transfer toward and charge separation within highly conserved reaction centers (RCs). The function principles of RCs in purple bacteria offer a blueprint for an optoelectronic device, which efficiently utilizes the near-IR region of the solar spectrum. We present theoretical modeling of the nonlinear optical response of the bacterial RC B. viridis incorporating electron and energy transfer on equal footing. The splitting of special pair excitons P is the origin of distinct cross peaks, which allow monitoring of the kinetics of charge separation...
July 5, 2012: Journal of Physical Chemistry Letters
Alli P Hanley, Jonathan D Blumenthal, Nancy Raitano Lee, Eva H Baker, Liv S Clasen, Jay N Giedd
The phenotype of 48, XXYY syndrome (referred to as XXYY) is associated with characteristic but variable developmental, cognitive, behavioral and physical abnormalities. To discern the neuroanatomical phenotype of the syndrome, we conducted quantitative and qualitative analyses on MRI brain scans from 25 males with XXYY and 92 age and SES matched typically developing XY males. Quantitatively, males in the XXYY group had smaller gray and white matter volumes of the frontal and temporal lobes. Conversely, both gray and white matter volumes of the parietal lobe as well as lateral ventricular volume were larger in the XXYY group...
2015: NeuroImage: Clinical
Sefa Resim, Faruk Kucukdurmaz, Nazım Kankılıc, Ozlem Altunoren, Erkan Efe, Can Benlioglu
Klinefelter syndrome is the most common sex chromosome abnormality (SCA) in infertile patients and 47,XXY genomic configuration constitutes most of the cases. However, additional Xs and/or Y such as 48,XXYY, 48,XXXY, and 47,XYY can occur less frequently than 47,XXY. Those configurations were considered as variants of Klinefelter syndrome. In this report, we present an infertile man with tall stature and decreased testicular volume. Semen analysis and hormonal evaluation supported the diagnosis of nonobstructive azoospermia...
2015: Case Reports in Genetics
Sridevi Krishnamoorthy, Velayutham Gopikrishna
Taurodontism is a developmental anomaly of a tooth characterized by large pulp chamber and short roots. Patients with multiple taurodontic teeth are associated with the probability of a systemic syndrome or chromosomal anomaly. This is the first reported incidence of the endodontic management of a hyper taurodontic mandibular second molar in a patient diagnosed with 48, XXYY syndrome.
May 2015: Journal of Conservative Dentistry: JCD
Benjamin S C Wade, Shantanu H Joshi, Martin Reuter, Jonathan D Blumenthal, Arthur W Toga, Paul M Thompson, Jay N Giedd
BACKGROUND: Supernumerary sex chromosome aneuploidies (sSCA) are characterized by the presence of one or more additional sex chromosomes in an individual's karyotype; they affect around 1 in 400 individuals. Although there is high variability, each sSCA subtype has a characteristic set of cognitive and physical phenotypes. Here, we investigated the differences in the morphometry of the human corpus callosum (CC) between sex-matched controls 46,XY (N =99), 46,XX (N =93), and six unique sSCA karyotypes: 47,XYY (N =29), 47,XXY (N =58), 48,XXYY (N =20), 47,XXX (N =30), 48,XXXY (N =5), and 49,XXXXY (N =6)...
2014: Biology of Sex Differences
Amy Lin, Liv Clasen, Nancy Raitano Lee, Gregory L Wallace, Francois Lalonde, Jonathan Blumenthal, Jay N Giedd, Armin Raznahan
The human brain displays stereotyped and early emerging patterns of cortical asymmetry in health. It is unclear if these asymmetries are highly sensitive to genetic and environmental variation or fundamental features of the brain that can survive severe developmental perturbations. To address this question, we mapped cortical thickness (CT) asymmetry in a group of genetically defined disorders known to impact CT development. Participants included 137 youth with one of five sex-chromosome aneuploidies [SCAs; XXX (n = 28), XXY (n = 58), XYY (n = 26), XXYY (n = 20), and XXXXY (n = 5)], and 169 age-matched typically developing controls (80 female)...
January 7, 2015: Journal of Neuroscience: the Official Journal of the Society for Neuroscience
Georgette Beatriz Paula, Juliana Gabriel Ribeiro Andrade, Guilherme Guaragna-Filho, Letícia Esposito Sewaybricker, Márcio Lopes Miranda, Andréa Trevas Maciel-Guerra, Gil Guerra-Júnior
BACKGROUND: Ovotesticular disorder of sex development (OT-DSD) (true hermaphroditism) is an anatomopathological diagnosis based on the findings of testicular and ovarian tissues in the same subject, in the same gonad (ovotestis), or in separate gonads. OT-DSD is a rare cause of sex ambiguity, and the most common karyotype is 46,XX; mosaics and chimeras are found only in 10%-20%. AIM: To report a case of an OT-DSD patient with a rare karyotype constitution. CASE REPORT: A 2-month-old child with male sex assignment was referred to our clinic for investigation of sex ambiguity...
May 2015: Journal of Pediatric Endocrinology & Metabolism: JPEM
Michael Bayat, Allan Bayat
We report a seven-year-old boy with 48,XXYY karyotype, presenting with tremor and a slight retardation of psychomotor development. Although the physical phenotype is similar to 47,XXY, 48,XXYY is associated with additional medical problems and more significant neurodevelopmental and psychological features. Increased awareness of such features is important to facilitate timely diagnosis and initiation of appropriate screenings and treatments. Karyotyping should be considered in individuals presenting with tremor and a history of develop-mental delay, learning disabilities, tall stature or micro-orchidism...
January 27, 2014: Ugeskrift for Laeger
C Roche, C Sonigo, N Benmiloud-Tandjaoui, J Boujenah, B Benzacken, C Poncelet, J-N Hugues
48,XXYY syndrome is a rare form of sex chromosomal aneuploidy. Usually considered as a variant of Klinefelter syndrome because of shared features (azoospermia, tall stature, hypergonadotropic hypogonadism), it is a separate entity because diagnostic is currently made in prepubertal boy with neuro-psychological disorders. We here report the case of a 48,XXYY patient consulting for adult infertility and the indication to perform testicular sperm extraction is discussed.
July 2014: Gynécologie, Obstétrique & Fertilité
Michelle J Spierings, Carel ten Cate
Variation in pitch, amplitude and rhythm adds crucial paralinguistic information to human speech. Such prosodic cues can reveal information about the meaning or emphasis of a sentence or the emotional state of the speaker. To examine the hypothesis that sensitivity to prosodic cues is language independent and not human specific, we tested prosody perception in a controlled experiment with zebra finches. Using a go/no-go procedure, subjects were trained to discriminate between speech syllables arranged in XYXY patterns with prosodic stress on the first syllable and XXYY patterns with prosodic stress on the final syllable...
July 22, 2014: Proceedings. Biological Sciences
Yuriko Katsushima, Fumio Katsushima, Noriko Katsushima
We report an 18-yr-old Japanese boy with a 48,XXYY karyotype and extreme tall stature (194 cm). A GnRH test at 12.5 yr of age showed hypergonadotropism (LH, 4.2 → 72.2 mIU/mL; FSH, 28.9 → 61.7 mIU/mL), and an hCG test at 15.5 yr of age revealed a normal testosterone response (1.67 → 4.08 ng/mL). The tall stature is remarkable, because the mean adult height of Caucasian 48,XXYY patients is 181 cm. Although the underlying factors for the tall stature are unknown, this report indicates an association of the 48,XXYY karyotype with marked tall stature...
2008: Clinical Pediatric Endocrinology: Case Reports and Clinical Investigations: Official Journal of the Japanese Society for Pediatric Endocrinology
Xiangdong Kong, Lin Li, Lei Sun, Kepeng Fu, Ju Long, Xunjin Weng, Xuehe Ye, Xinxiong Liu, Bo Wang, Shanhuo Yan, Haiming Ye, Zuqian Fan
The aim of this study was use a simple and rapid procedure, called segmental duplication quantitative fluorescent polymerase chain reaction (SD-QF-PCR), for the prenatal diagnosis of fetal chromosomal aneuploidies. This method is based on the co-amplification of segmental duplications located on two different chromosomes using a single pair of fluorescent primers. The PCR products of different sizes were subsequently analyzed through capillary electrophoresis, and the aneuploidies were determined based on the relative dosage between the two chromosomes...
2014: PloS One
M F Messina, D Corica, S Santucci, E Pitrolo, M Romeo, F De Luca
UNLABELLED: Klinefelter syndrome (KS) is the most frequent chromosomal aneuploidy with a prevalence of 1:500 men but it often remains a largely undiagnosed condition and only 10% of cases are identified in childhood and adolescence. We report the anamnestic, clinical and auxological findings of 14 KS patients diagnosed in paediatric age. 3/14 patients (21%) with KS were diagnosed in prenatal age by amniocentesis, 1 patient was diagnosed at birth due to genital ambiguity and the remaining 10/14 (71...
July 2013: La Pediatria Medica e Chirurgica: Medical and Surgical Pediatrics
L H Levison
A case of XXYY genotype with sexual psychopathology is described, and 30 previous cases are reviewed. Consideration of family history emphasizes a statistically high rate of twinning and firstborns. Review of the clinical appearance of the patients described indicates that obesity, tallness, and feminine features are more common in association with the XXYY karyotype but by no means pathognomonic of it. The incidence of other pathology, particularly cardiovascular and orthopedic conditions and hypogonadism, appears to be high in a group of XXYY patients...
September 1971: Archives of Sexual Behavior
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