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Klinefelter syndrome is not an inherited condition. The extra X chromosome comes from the mother in approximately 50% of the cases. Maternal age is the only known risk factor. Women at 40 years have a four-times-higher risk of a child with Klinefelter syndrome than women aged 24 years. [14] [34] [35]
X-linked intellectual disability and macroorchidism (fragile X syndrome) X: X-linked spinal-bulbar muscle atrophy (spinal and bulbar muscular atrophy) X: Xp11.2 duplication syndrome Xp11.2: D [34] 1:1,000,000 X-linked severe combined immunodeficiency (X-SCID) X: X-linked sideroblastic anemia (XLSA) ALAS2 (X) 47,XXX (triple X syndrome) X C 1: ...
Sertoli cell-only syndrome (SCOS), also known as germ cell aplasia, is defined by azoospermia where the testicular seminiferous tubules are lined solely with sertoli cells. [2] Sertoli cells contribute to the formation of the blood-testis barrier and aid in sperm generation.
XXXXY syndrome, also known as 49,XXXXY syndrome or Fraccaro syndrome, is an extremely rare aneuploidic sex chromosomal abnormality. It occurs in approximately 1 out of 85,000 to 100,000 males. [1] [2] [3] This syndrome is the result of maternal non-disjunction during both meiosis I and II. [4]
107999 Ensembl ENSG00000178605 ENSMUSG00000033434 UniProt O43824 Q3U6U5 RefSeq (mRNA) NM_012227 NM_145147 RefSeq (protein) NP_036359 NP_660129 Location (UCSC) Chr X: 0.3 – 0.32 Mb Chr 5: 110.25 – 110.26 Mb PubMed search Wikidata View/Edit Human View/Edit Mouse GTP binding protein 6 also known as GTPBP6 is a protein which in humans is encoded by the pseudoautosomal GTPBP6 gene. Clinical ...
With drug overdose rates skyrocketing—deaths jumped from 8.2 per 100,000 people in 2002 to 32.6 in 2022, according to the Centers for Disease Control and Prevention—more attention than ever is ...
Down syndrome is also referred to as trisomy 21. Other numerical abnormalities discovered include sex chromosome abnormalities. A female with only one X chromosome has Turner syndrome, whereas a male with an additional X chromosome, resulting in 47 total chromosomes, has Klinefelter syndrome.
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