<scp>T</scp>urner Syndrome

Sybert, Virginia P.

doi:10.1002/0471695998.mgs049

Cited by 12 publications

(14 citation statements)

References 89 publications

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“…Among the 53 Turner syndrome cases, standard monosomy, mosaicism, and structural rearrangement accounted for 34.0% (18 cases), 54.7% (29 cases) and 11.3% (six cases), respectively. Compared to the relative frequencies of Turner syndrome reported by Jacobs et al [21] and Sybert [22], standard monosomy and structural rearrangement were found in this study at a lower, and mosaicism at a higher, incidence, which might be due to the possibility of maternal cell contamination and the high sensitivity of detecting mosaicism by the in situ culture method. But other reports have found that mosaicism is common in Turner syndrome, ranging from 66.7% [23] to 90% of cases [24].…”

Section: Discussioncontrasting

confidence: 87%

Clinical and Cytogenetic Findings on 31,615 Mid-trimester Amniocenteses

Han

Jeong³

et al. 2008

Ann Lab Med

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Prenatal diagnosis with cytogenetic analysis has been recognized for more than 20 yr as a safe and reliable method for couples at increased risk of giving birth to a child with a clinically significant chromosomal abnormality [1,2]. Until Background : Since amniocentesis made prenatal diagnosis feasible in 1967, the method has become a popular tool in obstetric practices. In Korea, the demand for genetic counseling and prenatal tests has increased markedly because the number and proportion of pregnancies in women aged 35 yr and older have increased over a 20-yr period. Here we report clinical and cytogenetic findings on 31,615 mid-trimester amniocenteses.Methods : To investigate the changes in the annual number of amniocentesis, distribution of indications and age, and cytogenetic findings and abnormality rate according to indications, this study retrospectively analyzed 31,615 cases of mid-trimester amniocentesis performed at Seoul Clinical Laboratories, an independent medical laboratory center, during the past 13 yr (1994)(1995)(1996)(1997)(1998)(1999)(2000)(2001)(2002)(2003)(2004)(2005)(2006)(2007).Results : The annual number of amniocenteses has increased substantially since 1994. Among the 31,615 amniocentesis cases, the maternal age between 30 and 34 yr was the most common age group (35.4%). Among clinical indications, abnormal maternal serum screening results have been the most common indication for amniocentesis since 1994. Chromosomal abnormalities were detected in 973 cases (3.1%). Down syndrome was the most common abnormality found (36.9%, 359/973). In sex chromosomal abnormalities, 53 cases of Turner syndromes, 32 cases of Klinefelter syndromes, 20 cases of triple X syndromes, and 15 cases of 47,XYY were diagnosed. Of structural rearrangements, reciprocal translocations between two autosomes were the most common (15.5%, 151/973). Abnormal ultrasonographic findings showed the highest positive predictive value (5.9%) among the clinical indications.Conclusions : The present study could be used for the establishment of a database for genetic counseling. The discovery of an abnormality provides the option of termination or continuation in the pregnancy, a more suitable obstetric management in Korea. (Korean J Lab Med 2008;28:378-85) Key Words : Prenatal diagnosis, Amniocentesis, Chromosomal abnormalities, Genetic counseling New York, USA), 100 U/mL penicillin (Biological, Inc.), and 100 μ g/mL streptomycin (Biological, Inc.) using the technique described elsewhere [6]. Cultures were harvested when colonies were sufficient (at least 15 colonies), 9-15 days (in case of in situ culture method, 6-10 days) after seeding. MATERIALS AND METHODS ClinicalChromosomes were prepared in the usual manner [6]. Routine diagnosis was performed using the GTG-banding technique [7]. In some cases, analysis was completed by the Cbanding technique. RESULTS Annual number of amniocentesesThe number of amniocenteses requested increased substantially after 1994, particularly sharply in 2000 (Fig. 1). 380Sung-Hee Han, Jeong-Wo...

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Section: Discussioncontrasting

confidence: 87%

Clinical and Cytogenetic Findings on 31,615 Mid-trimester Amniocenteses

Han

Jeong³

et al. 2008

Ann Lab Med

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“…Associated extracardiac anomalies are detected in the 15–28% of cases, in the setting of chromosomal anomalies, Mendelian disorders, and organ defects [Natowicz et al, ; Ferencz et al, ]. Several chromosome anomalies are known to be associated with HLHS, including monosomy X (Turner syndrome) [Natowicz et al, ; Mazzanti and Cacciari, ; Loscalzo et al, ; Sybert, ], terminal deletions 11q (Jacobsen syndrome) [Grossfeld et al, ] and 15q26 [Lalani et al, ], trisomy 18 and trisomy 13 [Natowicz et al, ; Ferencz et al, ].…”

Section: Introductionmentioning

confidence: 99%

Hypoplastic left heart syndrome and 21q22.3 deletion

Ciocca

Digilio

Lombardo

et al. 2015

American J of Med Genetics Pt A

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Hypoplastic left heart syndrome (HLHS) is a rare congenital heart defect (CHD), associated with extracardiac anomalies in the 15-28% of cases, in the setting of chromosomal anomalies, mendelian disorders, and organ defects. We report on a syndromic female newborn with HLHS and terminal 21q22.3 deletion (del 21q22.3), investigated by Fluorescence In Situ Hybridization (FISH) using a panel of 26 contiguous BAC probes. Although rare, del 21q22.3 has been described in two additional patients with HLHS. In order to investigate the frequency and role of this chromosomal imbalance in the pathogenesis of left-sided obstructive heart defects, we screened for del 21q22.3 a series of syndromic and non-syndromic children with HLHS, aortic coarctation and valvular aortic stenosis, consecutively admitted to our hospital in a three-year period. Although none of the 56 analyzed patients were hemizygous for this region, the present case report and published patients argue that del 21q22 should be added to the list of chromosomal imbalances associated with HLHS. Accordingly, the presence of a cardiac locus mapping in the critical region cannot be excluded.

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“…Turner syndrome, also called monosomy X syndrome, is the most common sex chromosome disorder that occurs when only one X chromosome is present and all or part of the second sex chromosome (X or Y) is missing (19, 90); hence, this condition occurs only in female subjects. Turner syndrome is associated with short stature, gonadal dysgenesis, webbing of the neck, cardiac abnormalities, estrogen deficiency, osteoporosis and congenital lymphoedema (19, 83, 90). Gonadal dysgenesis generally refers to a condition characterized by defective development of gonads in female subjects, resulting in loss of ovarian function and lack of estrogen hormone.…”

Section: X‐linked Genetic Diseases and The Periodontiummentioning

confidence: 99%

Do X‐linked diseases affect periodontal health?

Chien¹,

Hart²

2012

Periodontology 2000

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Genetic factors play an important etiologic role in destructive periodontal diseases. There have been reports that sex chromosomes, especially disorders associated with the X chromosome, affect periodontal health. Although numerous X-linked diseases have been reported to be associated with various periodontal diseases, the association of gingivitis and/or periodontitis with these genetic syndromes should be considered tenuous and raises the question of whether the periodontal manifestation truly arises from an underlying X-linked genetic etiology. A brief overview of genetics in relation to sex chromosomes and putative X-linked genetic periodontal diseases is given.

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Turner Syndrome

Cited by 12 publications

References 89 publications

Clinical and Cytogenetic Findings on 31,615 Mid-trimester Amniocenteses

Clinical and Cytogenetic Findings on 31,615 Mid-trimester Amniocenteses

Hypoplastic left heart syndrome and 21q22.3 deletion

Do X‐linked diseases affect periodontal health?

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