We have located links that may give you full text access.
ENGLISH ABSTRACT
JOURNAL ARTICLE
[Turner's syndrome. Relationship between the karyotypes and malformations and associated diseases in 23 patients].
Anales Españoles de Pediatría 1997 August
UNLABELLED: In this study we have assessed the frequency of karyotypes, phenotypes and some associated diseases 23 girls affected with turner's syndrome. Moreover, we have analyzed their relationships.
RESULTS: The most important findings the following: 1) The mean age at diagnosis was 7.37 +/- 5.65 (0, 16) years. 2) The most frequent karyotype was monosomy 45XO, which was found in fourteen patients (60.9%), followed by isochromosome of the long arm of chromosome 46 XiXq in five cases (21.7%), two mosaics, one 45 XO/46 XiXq and one 45XO/46XX, and two deletions of the short arm of chromosome X (46 XX Xp-). 3) The classical phenotype was found in 87% of the cases. 4) Bone malformations were found in nine patients (39.1%). The most frequent were, short metacarpals in five cases, knee anomalies (Kosowicz's sign) in four, one Madelung deformity and one alata scapula. 5) Renal malformations were detected in five patients (21.8%), two rotational abnormalities, two horseshoe kidneys and one double collecting system. 6) Cardiovascular malformations were found in four cases (17.3%). Three bicuspid aortic valves and one aortic coarctation were diagnosed. 7) Otitis media was discovered in seven girls (30.5%). 8) Other processes found were, congenital lymphedema in four cases, one Klipell-Trenaunay syndrome, one Dandy-Walker anomaly, one congenital glaucoma, one colesteatoma, one congenital torticolis, one hit luxation and one essential arterial hypertension. A significant correlation was found between karyotype and phenotype, such that all of the patients with monosomies and with mosaics, 66% of those with X isochromosomes and one of the patients with a deletion had a classical phenotype. We found no correlation between the karyotype and the different malformations and associated diseases.
RESULTS: The most important findings the following: 1) The mean age at diagnosis was 7.37 +/- 5.65 (0, 16) years. 2) The most frequent karyotype was monosomy 45XO, which was found in fourteen patients (60.9%), followed by isochromosome of the long arm of chromosome 46 XiXq in five cases (21.7%), two mosaics, one 45 XO/46 XiXq and one 45XO/46XX, and two deletions of the short arm of chromosome X (46 XX Xp-). 3) The classical phenotype was found in 87% of the cases. 4) Bone malformations were found in nine patients (39.1%). The most frequent were, short metacarpals in five cases, knee anomalies (Kosowicz's sign) in four, one Madelung deformity and one alata scapula. 5) Renal malformations were detected in five patients (21.8%), two rotational abnormalities, two horseshoe kidneys and one double collecting system. 6) Cardiovascular malformations were found in four cases (17.3%). Three bicuspid aortic valves and one aortic coarctation were diagnosed. 7) Otitis media was discovered in seven girls (30.5%). 8) Other processes found were, congenital lymphedema in four cases, one Klipell-Trenaunay syndrome, one Dandy-Walker anomaly, one congenital glaucoma, one colesteatoma, one congenital torticolis, one hit luxation and one essential arterial hypertension. A significant correlation was found between karyotype and phenotype, such that all of the patients with monosomies and with mosaics, 66% of those with X isochromosomes and one of the patients with a deletion had a classical phenotype. We found no correlation between the karyotype and the different malformations and associated diseases.
Full text links
Related Resources
Trending Papers
Heart failure with preserved ejection fraction: diagnosis, risk assessment, and treatment.Clinical Research in Cardiology : Official Journal of the German Cardiac Society 2024 April 12
Proximal versus distal diuretics in congestive heart failure.Nephrology, Dialysis, Transplantation 2024 Februrary 30
Efficacy and safety of pharmacotherapy in chronic insomnia: A review of clinical guidelines and case reports.Mental Health Clinician 2023 October
World Health Organization and International Consensus Classification of eosinophilic disorders: 2024 update on diagnosis, risk stratification, and management.American Journal of Hematology 2024 March 30
Get seemless 1-tap access through your institution/university
For the best experience, use the Read mobile app
All material on this website is protected by copyright, Copyright © 1994-2024 by WebMD LLC.
This website also contains material copyrighted by 3rd parties.
By using this service, you agree to our terms of use and privacy policy.
Your Privacy Choices
You can now claim free CME credits for this literature searchClaim now
Get seemless 1-tap access through your institution/university
For the best experience, use the Read mobile app