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Human autosomal trisomies compatible with live birth, other than Down syndrome (trisomy 21), are Edwards syndrome (trisomy 18) and Patau syndrome (trisomy 13). [ 1 ] [ 2 ] Complete trisomies of other chromosomes are usually not viable and represent a relatively frequent cause of miscarriage.
Cat eye syndrome (Schmid Fraccaro syndrome) [6] is a condition caused by a partial trisomy or tetrasomy in chromosome 22. A small extra chromosome is found, made up of the top half of chromosome 22 and a portion of the q arm at the q11.2 break.
[citation needed] Other candidate genes have been located, including the SHH (holoprosencephaly type 3 a.k.a. HPE3), TGIF, ZIC2, SIX3 [13] and BOC genes. [14] Although many children with holoprosencephaly have normal chromosomes, specific chromosomal abnormalities have been identified in some patients (trisomy of chromosome 13, also known as ...
XYY syndrome, also known as Jacobs syndrome, is an aneuploid genetic condition in which a male has an extra Y chromosome. [1] There are usually few symptoms. [ 2 ] These may include being taller than average and an increased risk of learning disabilities .
Leonard Sax, in response to Fausto-Sterling, estimated that the prevalence of intersex was about 0.018% of the world's population, [4] discounting several conditions included in Fausto-Sterling's estimate that included LOCAH, Klinefelter syndrome (47,XXY), Turner syndrome (45,X), the chromosomal variants of 47,XYY and 47,XXX, and vaginal ...
Dandy–Walker malformation (DWM), also known as Dandy–Walker syndrome (DWS), is a rare congenital brain malformation in which the part joining the two hemispheres of the cerebellum (the cerebellar vermis) does not fully form, and the fourth ventricle and space behind the cerebellum (the posterior fossa) are enlarged with cerebrospinal fluid.
HLHS is also associated with several genetic syndromes, including trisomy 13 (Patau syndrome), trisomy 18 (Edwards syndrome), partial trisomy 9, Turner's syndrome (XO), Jacobsen syndrome (11q deletion syndrome), Holt-Oram syndrome, and Smith-Lemli-Opitz syndrome.
Brittle-cornea syndrome is characterized by the progressive thinning of the cornea, early-onset progressive keratoglobus or keratoconus, nearsightedness, hearing loss, and blue sclerae. [5] [35] Classic symptoms, such as hypermobile joints and hyperelastic skin, are also seen often. [36] It has two types. Type 1 occurs due to variations in the ...