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PMID: 6682403 Published · ppublish English Journal Article Research Support, Non-U.S. Gov't

Screening for fra(X)(q) in a population of mentally retarded males.

Human genetics ·Vol. 63 ·No. 2 ·1983-00-00 ·Pages 153-7

Froster-Iskenius U, Felsch G, Schirren C, Schwinger E

Abstract

Among 242 institutionalized mentally retarded males in Northern Germany screened for fra(X)(q), 15 (6.2%) with severe mental retardation expressing fra(X)(q) were detected. One patient displayed Klinefelter's syndrome in addition. All fra(X)(q) males showed the typical facial signs, but three of the adults did not express macroorchidism. A preliminary estimation of an overall frequency of 1:2000 males for the fra(X)(q) condition is suggested.

MeSH Terms
Adolescent Adult Cells, Cultured Chromosome Aberrations Chromosome Banding Chromosome Disorders Ear/anatomy & histology Female Functional Laterality Humans Intellectual Disability/genetics Karyotyping Lymphocytes/cytology Male Middle Aged Sex Chromosome Aberrations Sex Chromosomes X Chromosome
Authors & Affiliations
4 authors, click to expand affiliations / ORCID
Froster-Iskenius U
Felsch G
Schirren C
Schwinger E
References (20)
20 references, click to expand
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Article Info
Journal
Human genetics
Abbr.
Hum Genet
ISSN
0340-6717
DOI
10.1007/BF00291535
Published
1983-00-00
Pages
153-7
Language
English
Region
Germany
NLM ID
7613873
Subset
IM
External Links
PubMed source DOI: 10.1007/BF00291535 View journal details
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