[Perinatal asphyxia as incorrect explanation for mental retardation]

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Title:	[Perinatal asphyxia as incorrect explanation for mental retardation]
Author(s):	Tuerlings, J.H.A.M. ; Smits, A.P.T. ; Berg, P.P. van den
Publication year:	2002
Source:	Nederlands Tijdschrift voor Geneeskunde, vol. 146, iss. 38, (2002), pp. 1765-1768
ISSN:	0028-2162
Publication type:	Article / Letter to editor
Please use this identifier to cite or link to this item : https://hdl.handle.net/2066/165285
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Subject:	Chromosomal aberrations and cancer Elucidation of hereditary disorders and their molecular diagnosis Prevention of disorders in human reproduction: (Patho)Physiological, endocrinological and methabolic aspects Chromosomale aberraties en kanker Opheldering van erfelijke ziekten en hun moleculaire diagnostiek Preventie van stoornissen in de menselijke voortplanting: (Patho-)fysiologische, endocriene en metabole aspecten.
Organization:	Human Genetics Gynaecology
Journal title:	Nederlands Tijdschrift voor Geneeskunde
Volume:	vol. 146
Issue:	iss. 38
Page start:	p. 1765
Page end:	p. 1768
Abstract:	Three women, aged 21, 34 and 32 and with a family history of mental retardation said to be caused by perinatal asphyxia, each gave birth to a child with mental retardation. A chromosomal translocation, fragile X syndrome, and myotonic dystrophy could be diagnosed, respectively. In retrospect, the diagnosis of perinatal asphyxia in the family history had been too readily accepted. In reality the mental retardation was caused by a genetic disorder. Physicians are used to making a diagnosis, and when a diagnosis is not (yet) possible, they try to establish a working diagnosis or differential diagnosis. Too often such a working diagnosis becomes, through time, a definite diagnosis.