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Autosomale Chromosomen aberrationen


Schinzel, Albert (1986). Autosomale Chromosomen aberrationen. Therapeutische Umschau : Monatsschrift für praktische Medizin, 43(12):882-887.

Abstract

Recent advances in cytogenetic techniques allowed a large number of autosomal chromosome aberrations to be detected and known from their clinical features. Autosomal chromosome aberrations (ACA) occur in about 1 out of 500 unselected newborns. Their incidence, however, is far higher in newborns with congenital malformations, stillborns, and spontaneous abortions. Prenatal manifestations of fetuses with ACA include intrauterine growth retardation, diminished biparietal diameter, frequent complications of pregnancies such as polyhydramnios, bleedings, threatened abortion and ultrasonographically detectable malformations and abnormalities, particularly hygroma of the neck. Post partum, the characteristic finding in ACA are: gross motor and mental retardation, dysmorphic features and malformations. Most characteristic for ACA is a particular pattern of dysmorphic features, followed by a certain combination of congenital malformations. Less specific are single malformations and anomalies. The most consistent finding is mental deficiency. Puberty is diminished and delayed in most patients with ACA, fertility is strongly reduced, particularly in males, and lifespan is also reduced. Some ACA have a higher than average incidence of malignancies. The diagnosis of ACA is very important for proper genetic counselling, especially for prenatal diagnosis in pregnancies at increased recurrence risks, and a better prognosis and adequate education of affected patients.

Abstract

Recent advances in cytogenetic techniques allowed a large number of autosomal chromosome aberrations to be detected and known from their clinical features. Autosomal chromosome aberrations (ACA) occur in about 1 out of 500 unselected newborns. Their incidence, however, is far higher in newborns with congenital malformations, stillborns, and spontaneous abortions. Prenatal manifestations of fetuses with ACA include intrauterine growth retardation, diminished biparietal diameter, frequent complications of pregnancies such as polyhydramnios, bleedings, threatened abortion and ultrasonographically detectable malformations and abnormalities, particularly hygroma of the neck. Post partum, the characteristic finding in ACA are: gross motor and mental retardation, dysmorphic features and malformations. Most characteristic for ACA is a particular pattern of dysmorphic features, followed by a certain combination of congenital malformations. Less specific are single malformations and anomalies. The most consistent finding is mental deficiency. Puberty is diminished and delayed in most patients with ACA, fertility is strongly reduced, particularly in males, and lifespan is also reduced. Some ACA have a higher than average incidence of malignancies. The diagnosis of ACA is very important for proper genetic counselling, especially for prenatal diagnosis in pregnancies at increased recurrence risks, and a better prognosis and adequate education of affected patients.

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Additional indexing

Other titles:Autosomal chromosome aberrations
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)
Language:German
Date:December 1986
Deposited On:28 Mar 2024 09:16
Last Modified:30 Apr 2024 01:53
Publisher:Hogrefe & Huber
ISSN:0040-5930
OA Status:Closed
PubMed ID:3824258