Prenatal Diagnosis of Mental Retardation and its implications

1986 ◽  
Vol 9 (4) ◽  
pp. 625-634 ◽  
Author(s):  
J.M. Berg
Keyword(s):  
Mental Retardation ◽  
Prenatal Diagnosis

Prenatal diagnosis of X-linked choroideremia with mental retardation, associated with a cytologically detectable X-chromosome deletion

1987 ◽  
Vol 75 (3) ◽  
pp. 286-290 ◽  
Author(s):  
S. V. Hodgson ◽  
M. E. Robertson ◽  
C. N. Fear ◽  
J. Goodship ◽  
S. Malcolm ◽  
...  
Keyword(s):  
Mental Retardation ◽  
Prenatal Diagnosis ◽  
X Chromosome ◽  
Chromosome Deletion

Use of linkage data obtained in single families: Prenatal diagnosis of a new X-linked mental retardation syndrome

1992 ◽  
Vol 43 (1-2) ◽  
pp. 415-419 ◽  
Author(s):  
John C. Mulley ◽  
Agi K. Gedeon ◽  
Sue Wilson ◽  
Eric A. Haan
Keyword(s):  
Mental Retardation ◽  
Prenatal Diagnosis ◽  
Linkage Data

A 11.7-Mb Paracentric Inversion in Chromosome 1q Detected in Prenatal Diagnosis Associated with Familial Intellectual Disability

2015 ◽  
Vol 146 (2) ◽  
pp. 109-114
Author(s):  
Maria A. Rigola ◽  
Neus Baena ◽  
Vicenç Català ◽  
Iris Lozano ◽  
Elisabet Gabau ◽  
...  
Keyword(s):  
Mental Retardation ◽  
Intellectual Disability ◽  
Prenatal Diagnosis ◽  
Paracentric Inversion ◽  
Position Effects ◽  
Chromosomal Alterations ◽  
Molecular Cytogenetic ◽  
Chromosome 1Q ◽  
Chromosomal Inversions ◽  
Cytogenetic Methods

Most apparent balanced chromosomal inversions are usually clinically asymptomatic; however, infertility, miscarriages, and mental retardation have been reported in inversion carriers. We present a small family with a paracentric inversion 1q42.13q43 detected in routine prenatal diagnosis. Molecular cytogenetic methods defined the size of the inversion as 11.7 Mb and excluded other unbalanced chromosomal alterations in the patients. Our findings suggest that intellectual disability is caused by dysfunction, disruption, or position effects of genes located at or near the breakpoints involved in this inversion.

The Prenatal Diagnosis of Hereditary Disorders, by Aubrey Milunsky, MB.B.Ch., M.R.C.P., D.C.H. Springfield, Illinois: Charles C Thomas, 1973, 253 pp., $11.75

PEDIATRICS ◽  
1974 ◽  
Vol 54 (1) ◽  
pp. 129-130
Author(s):  
Reuben Matalon
Keyword(s):  
Mental Retardation ◽  
Prenatal Diagnosis ◽  
Early Detection ◽  
Genetic Disease ◽  
Antenatal Diagnosis ◽  
Genetic Diseases ◽  
Comprehensive Review ◽  
The Past ◽  
Hereditary Disorders ◽  
The Subject

During the past decade there has been an enormous change in our approach to the problem of crippling genetic diseases and mental retardation. This change came primarily through better understanding of the causes of such disorders, which hopefully will result in either prevention or amelioration of such conditions. The field of prenatal diagnosis offers new opportunities for the prevention of an irreparable genetic disease through early detection. This book gives a comprehensive review of the subject of antenatal diagnosis, including the basic aspects of the techniques of amniocentesis, and the preservation and handling of amniotic fluid and cells.

Fraxa locus in fragile X diagnosis: Family studies, prenatal diagnosis, and diagnosis of sporadic cases of mental retardation

1994 ◽  
Vol 51 (4) ◽  
pp. 486-489 ◽  
Author(s):  
Harriet von Koskull ◽  
Nina Gahmberg ◽  
Riitta Salonen ◽  
Armi Salo ◽  
Maarit Peippo
Keyword(s):  
Mental Retardation ◽  
Prenatal Diagnosis ◽  
Fragile X ◽  
Family Studies ◽  
Sporadic Cases
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