Holoprosencephaly in a Down syndrome child
| Autor: | Soo-Young Pi, Robert M. Fineman, S. Douglas Wing, Margaret Grunnet, Gary Chan, John M. Optiz |
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| Rok vydání: | 1980 |
| Předmět: |
Central Nervous System
Genetics Down syndrome Developmental noise Central nervous system Infant Newborn Pregnancy in Diabetics Biology medicine.disease Bioinformatics Infant newborn Diabetes mellitus genetics medicine.anatomical_structure Holoprosencephaly Pregnancy Diabetes Mellitus Autosomal aneuploidy medicine Humans Abnormalities Multiple Female Down Syndrome Trisomy Genetics (clinical) |
| Zdroj: | American Journal of Medical Genetics. 5:201-206 |
| ISSN: | 1096-8628 0148-7299 |
| DOI: | 10.1002/ajmg.1320050214 |
| Popis: | Gross malformation of the central nervous system (CNS) is rare in Down syndrome (DS). To our knowledge we report for the first time the association of trisomy 21 and holoprosencephaly. Because of the low probability of chance concurrence due to unrelated causes, a causal relationship between these two conditions in the patient must be presumed. The anatomic similarity of the holoprosencephalic defect in this infant to that seen in others with autosomal dominant, recessive, sporadic, or syndromal forms of holoprosencephaly, supports the hypothesis that: a) this CNS defect is a causally nonspecific developmental field complex (DFC); b) the increased incidence of such DFC's in the DS represents the result of a nonspecific decrease of developmental homeostasis [Waddington, 1975] due to autosomal aneuploidy. |
| Databáze: | OpenAIRE |
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