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Karyotype‐Phenotype Correlation in Females with × Chromosome Abnormalities
Author(s) -
KOSMAIDOUARAVIDOU ZOE
Publication year - 1997
Publication title -
annals of the new york academy of sciences
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.712
H-Index - 248
eISSN - 1749-6632
pISSN - 0077-8923
DOI - 10.1111/j.1749-6632.1997.tb52164.x
Subject(s) - karyotype , citation , annals , genetics , chromosome , library science , medicine , biology , history , classics , computer science , gene
In mammals, females have a pair of X chromosomes, whereas males have one X chromosome and one Y chromosome, which is much smaller and contains fewer genes than a X chromosome. One of the pair of X chromosomes is inactivated in females. The inactivated X chromosome is late-replicating, heterochromatic, and genetically unexpressed. An X inactivation center (XIC) located at a proximal region on Xq is thought to control inactivation of an X chromosome. There has been increasing scientific interest in the relationship between chromosomal and clinical findings in different chromosomal aberrations, whether affecting the sex chromosomes or the autosomes. The genetic and molecular implications of the karyotype/phenotype controversy have recently been considered with the aim of better understanding the interplay of specific genes carried on different chromosomes in organ development and differentiation. Karyotype/phenotype correlation showed the gradation of severity of clinical phenotype to be related to the number of X chromosomes.