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PMID: 1150230 Published · ppublish English Journal Article

Chromosome studies in patients with congenital malformations and mental retardation.

Humangenetik ·Vol. 26 ·No. 4 ·1975-00-00 ·Pages 297-306

Erdtmann B, Salzano FM, Mattevi MS

Abstract

16 (41%) out of 39 individuals referred by physicians because of sexual anomalies showed abnormal karyotypes; the corresponding figure for those investigated due to suspected autosomal aberrations was 37 out of 104 (36%). A special survey was also conducted among 51 mentally defective children with at least 3 malformations; 5 individuals (10%) were observed with chromosome abnormalities plus 3(6%) with rare variants. These results were compared with those presented in 26 other surveys reported in the literature.

MeSH Terms
Abnormalities, Multiple/genetics Adolescent Child Chromosome Aberrations/genetics Chromosome Disorders Disorders of Sex Development/genetics Female Humans Intellectual Disability/genetics Karyotyping Male Sex Chromosome Aberrations/genetics
Authors & Affiliations
3 authors, click to expand affiliations / ORCID
Erdtmann B
Salzano F M
Mattevi M S
References (25)
25 references, click to expand
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Article Info
Journal
Humangenetik
Abbr.
Humangenetik
ISSN
0018-7348
DOI
10.1007/BF00285381
Published
1975-00-00
Pages
297-306
Language
English
Region
Germany
NLM ID
7607154
Subset
IM
External Links
PubMed source DOI: 10.1007/BF00285381
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