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Trisomy X, also known as triple X syndrome and characterized by the karyotype [note 1] 47,XXX, is a chromosome disorder in which a female has an extra copy of the X chromosome. It is relatively common and occurs in 1 in 1,000 females, but is rarely diagnosed; fewer than 10% of those with the condition know they have it.
In 2006, some doctors diagnosed Sellars as having Proteus syndrome, a very rare condition thought to affect only 120 people worldwide, [1] but more recent diagnoses have focused on a PIK3CA gene mutation. Some reports still describe her condition as a rare form of Proteus syndrome, [2] but Sellars herself has disputed the diagnosis. [3]
First major character with Down syndrome on a television series, portrayed by a person who also has Down syndrome. Chris Burke: Yes [113] 2018 Penny Stevenson: Doctors: She was born with a right arm that ends just below the elbow. Cerrie Burnell: Yes [114] 1994 Kerry Weaver: ER: Limp in her gait due to congenital hip dysplasia: Laura Innes: No ...
46, XX male syndrome, also known as de la Chapelle syndrome In this list, the karyotype is summarized by the number of chromosomes, followed by the sex chromosomes present in each cell. (In the second and third cases the karyotype varies from cell to cell, while in the last three cases, the genotype is normal but the phenotype is not.)
Fragile X syndrome (FXS) is a genetic neurodevelopmental disorder characterized by mild-to-moderate intellectual disability. [1] The average IQ in males with FXS is under 55, while about two thirds of affected females are intellectually disabled.
“Black eye, orbital bone, passed out. Bad, bad, bad stuff,” Glenn recalled of the 2020 incident. Glenn is positive she endured other concussions as a young skater.
"Gilmore Girls" premiered 24 years ago and launched many of its leading cast members to fame. Stars Lauren Graham, Alexis Bledel, and Melissa McCarthy all went on to successful acting careers ...
The syndrome is defined by the presence of at least one extra X chromosome in addition to a Y chromosome, yielding a total of 47 or more chromosomes rather than the usual 46. Klinefelter syndrome occurs randomly. The extra X chromosome comes from the father and mother nearly equally.