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PMID: 1087853 Published · ppublish English Case Reports Journal Article

Duplication-deficiency of the short arm of chromosome 8 following artificial insemination.

Annales de genetique ·Vol. 19 ·No. 4 ·1976-12-00 ·Pages 241-7

Weleber RG, Verma RS, Kimberling WJ, Fieger HG, lubs HA

Abstract

A chromosomally abnormal child with psychomotor retardation and multiple anomalies, including agenesis of the corpus callosum and cleft palate, was born following artificial insemination by donor. Chromosomal and conventional markers were used to ascertain paternity. Various banding techniques were employed to identify the origin of the extra chromosomal material as most likely a duplication-deficiency of the short arm of chromosome No. 8.

Keywords
Artificial Insemination Case Studies Chromosome Abnormalities Congenital Abnormalities Diseases Neonatal Diseases And Abnormalities Reproduction Reproductive Technologies Research Methodology Studies
MeSH Terms
Abnormalities, Multiple/genetics Chromosome Aberrations/genetics Chromosome Disorders Chromosomes, Human, 6-12 and X Dermatoglyphics Female Humans Infant Infant, Newborn Insemination, Artificial Intellectual Disability/genetics Karyotyping
Authors & Affiliations
5 authors, click to expand affiliations / ORCID
Weleber R G
Verma R S
Kimberling W J
Fieger H G
lubs H A
Other Abstracts
eng

A case study of a chromosomally abnormal child, conceived through artificial insemination, with psychomotor retardation and multiple anomalies, including agenesis of the corpus callosum and cleft palate, is reported. Paternity was established through chromosomal and conventional markers. Various banding techniques were used to determine the origin of the extra chromosome. It is likely that the extra chromosomal material was the result of a duplication-deficiency of the short arm of chromosome No. 8.

Article Info
Journal
Annales de genetique
Abbr.
Ann Genet
ISSN
0003-3995
Published
1976-12-00
Pages
241-7
Language
English
Region
Netherlands
NLM ID
0370562
Subset
IM
External Links
PubMed source
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