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Monogene Erbleiden: Knochen, Bindegewebe, Dysmorphiesyndrome


Schinzel, Albert (1986). Monogene Erbleiden: Knochen, Bindegewebe, Dysmorphiesyndrome. Therapeutische Umschau : Monatsschrift für praktische Medizin, 43(12):910-915.

Abstract

Several hundred syndromes are known which are due to single mutant genes and which are characterized by multiple congenital anomalies and/or skeletal dysplasias and connective tissue disorders. The classification of such a syndrome is mostly based on a specific combination of clinical and/or radiologic findings, and in special diagnoses also on pedigree, biochemical, hematologic, cytogenetic or microscopic findings. Extensive studies are often necessary for confirmation of a diagnosis. For the purpose of genetic counselling, it is important to be aware of genetic heterogeneity (existence of different modes of inheritance for clinically identical syndromes) and of possible reduced penetrance and variable expression. In the latter case, extensive examinations of further family members might be necessary prior to genetic counselling of a family with an affected proband.

Abstract

Several hundred syndromes are known which are due to single mutant genes and which are characterized by multiple congenital anomalies and/or skeletal dysplasias and connective tissue disorders. The classification of such a syndrome is mostly based on a specific combination of clinical and/or radiologic findings, and in special diagnoses also on pedigree, biochemical, hematologic, cytogenetic or microscopic findings. Extensive studies are often necessary for confirmation of a diagnosis. For the purpose of genetic counselling, it is important to be aware of genetic heterogeneity (existence of different modes of inheritance for clinically identical syndromes) and of possible reduced penetrance and variable expression. In the latter case, extensive examinations of further family members might be necessary prior to genetic counselling of a family with an affected proband.

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Additional indexing

Other titles:Monogenic inheritance: bones, connective tissue, dysmorphic syndromes
Item Type:Journal Article, refereed, original work
Communities & Collections:04 Faculty of Medicine > Institute of Medical Genetics
Dewey Decimal Classification:610 Medicine & health
570 Life sciences; biology
Scopus Subject Areas:Health Sciences > General Medicine
Uncontrolled Keywords:Genetics, Genetics (clinical), Marfan-Syndrome
Language:German
Date:December 1986
Deposited On:28 Mar 2024 08:45
Last Modified:30 Apr 2024 01:53
Publisher:Hogrefe & Huber
ISSN:0040-5930
OA Status:Closed
Related URLs:https://api.semanticscholar.org/CorpusID:13227523 (Organisation)
PubMed ID:3824262
Other Identification Number:Corpus ID: 13227523