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PMID: 511171 Published · ppublish English Journal Article

Heteromorphic X chromosomes in 46,XX males?

Human genetics ·Vol. 52 ·No. 2 ·1979-11-00 ·Pages 157-67

de la Chapelle A, Simola K, Simola P, Knuutila S, Gahmberg N, Pajunen L, Lundqvist C, Sarna S, Murros J

Abstract

This paper reports an attempt to determine whether the short arm of one of the X chromosomes in XX males is longer than normal. In a blind study comparing coded photomicrographs of 15 G-banded mitoses from each of five XX males and five control females, the results were ambiguous and somewhat contradictory, but gave the impression of, or were compatible with, an XXp+ phenomenon in at least two of the five XX males. Measurements of the X chromosomes from the above cells and, in addition, from 15 mitoses from each of six XXY males, failed to disclose any XXp+ phenomenon. Statistical analysis indicated that in the five XX males there was no difference in the lengths of the two Xp arms. The reasons for the apparent discrepancy between the results of ocular inspection and measurement are discussed. The putative heteromorphism might be an alteration in shape, staining intensity, or position of bands, neither of which necessarily leads to an increase in length. We conclude that our results do not indicate any XXp+ phenomenon in the five XX males tested. However, the presence or absence of XXp+ is not in itself evidence for or against interchange betweenthe X and Y in the paternal meiosis. Our results emphasize that the etiology of XX males is likely to be heterogeneous.

MeSH Terms
Female Humans Karyotyping Male Mitosis Sex Chromosome Aberrations/genetics Sex Chromosomes X Chromosome
Authors & Affiliations
9 authors, click to expand affiliations / ORCID
de la Chapelle A
Simola K
Simola P
Knuutila S
Gahmberg N
Pajunen L
Lundqvist C
Sarna S
Murros J
References (10)
10 references, click to expand
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Article Info
Journal
Human genetics
Abbr.
Hum Genet
ISSN
0340-6717
Published
1979-11-00
Pages
157-67
Language
English
Region
Germany
NLM ID
7613873
Subset
IM
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