Chromosoma X (homo)

Chromosoma X humanum est uno ex viginti tribus paribus in hominibus. Chromosoma X est unum ex duobus sexum determininantibus chromosomatum, quibus in feminis horum chromosomatum duo exempla, in maribus unum - cum uno chromosomate Y - sunt. Numerus basium conexarum est 154 913 754, quod est 5.0 centesimae omnium^[1]. Plures morbi genetici e mutationibus chromosomatis X oriuntur.

Gena

Inter alia in chromosomate humani X gena haec locata sunt:

MAOA - Monoaminorum oxidasis, isoenzymum A
MAOB - Monoaminorum oxidasis, isoenzymum B
Receptorium androgeni, loco Xq11.2

Varietates numericae

In hominibus de consuetudine numerus chromosomatis X intra nucleum ad unum in viris (una cum chromosomate Y) et ad duo in feminis refert. Tamen varietates non raro observatur, ex quibus frequentius sunt:

Syndroma Klinefelter — intra cellulas masculinas plus quam unum exemplum chromosomatis X inveniuntur, ut 47,XXY vel 48,XXYY vel 48,XXXY, vel 49,XXXXY^[2].
Syndroma X triplicis — intra cellulas femininas plus quam duo exempla chromosomatis X inveniuntur, 47,XXX^[3].
Syndroma Turner — intra cellulas femininas unum exemplum chromosomatis X invenitur, 45,X0^[4].

Notae

↑ Descriptio chromosomatis X.
↑ Tartaglia N., Ayari N., Howell S., D'Epagnier C., Zeitler P. (Iun 2011). "48,XXYY, 48,XXXY and 49,XXXXY syndromes: not just variants of Klinefelter syndrome". Acta paediatrica 100 (6): 851-60
↑ Otter M., Schrander-Stumpel C. T. R. M., Curfs L. M. G. (Mar 2010). "Triple X syndrome: a review of the literature". European journal of human genetics 18 (3): 265-71
↑ Gravholt C. H., Viuff M. H., Brun S., Stochholm K., Andersen N. H. (Oct 2019). "Turner syndrome: mechanisms and management". National reviews. Endocrinology 15 (10): 601-14

Nexus interni

Chromosoma Y

Nexus externi

Chromosoma X et Human Genome Project: http://web.ornl.gov/sci/techresources/Human_Genome/posters/chromosome/chromoX.shtml

Chromosomata hominis


Chromosoma • chromosoma 1 • chromosoma 2 • chromosoma 3 • chromosoma 4 • chromosoma 5 • chromosoma 6 • chromosoma 7 • chromosoma 8 • chromosoma 9 • chromosoma 10 • chromosoma 11 • chromosoma 12 • chromosoma 13 • chromosoma 14 • chromosoma 15 • chromosoma 16 • chromosoma 17 • chromosoma 18 • chromosoma 19 • chromosoma 20 • chromosoma 21 • chromosoma 22 • chromosoma X • chromosoma Y

[1] Descriptio chromosomatis X.

[2] Tartaglia N., Ayari N., Howell S., D'Epagnier C., Zeitler P. (Iun 2011). "48,XXYY, 48,XXXY and 49,XXXXY syndromes: not just variants of Klinefelter syndrome". Acta paediatrica 100 (6): 851-60

[3] Otter M., Schrander-Stumpel C. T. R. M., Curfs L. M. G. (Mar 2010). "Triple X syndrome: a review of the literature". European journal of human genetics 18 (3): 265-71

[4] Gravholt C. H., Viuff M. H., Brun S., Stochholm K., Andersen N. H. (Oct 2019). "Turner syndrome: mechanisms and management". National reviews. Endocrinology 15 (10): 601-14

[1]

[2]

[3]

[4]