The tetrasomy 18p (OMIM 614290) is a very rare chromosomal abnormality, with a prevalence of 1/140,000–180,000 live births.
FISH revealed a female tetrasomy 18p pattern in 43 of 50 interphase nuclei scored; the remaining 7 nuclei showed normal female chromosomes (46, XX, (7)/47, ish+i(18)(p10)(D18Z1+,18pter++) (43)) [Figure 1]b and [Figure 1]c.
The polysomy criterion of 4 cells includes the tetrasomy
class, defined by cells with 4 copies of each FISH probe signal.
Among the detected aneuploidy, the trisomy and tetrasomy
of the X chromosome were dominant (Figure 3).
The patient's medical history was significant for tetrasomy
15, bilateral congenital sensorineural hearing loss, and recurrent acute otitis media.
Chromosome 9: Numerical aberrations of chromosome 9 were detected in 13/50 (26%) patients: 9 had trisomy, 2 had tetrasomy
, 1 had tetrasomy
plus trisomy, 1 had monosomy.
In addition, seven of the 20 cells contained an additional isochromosome 8q resulting in an 8q tetrasomy
com) is an online listserv support group serving families and individuals dealing with tetrasomy
or pentasomy X (as well as triple X/tetra X and tetra X/penta X).
It took six weeks of more fear, concern, and worry before receiving a diagnosis of tetrasomy
18p, a rare syndrome based on a problem with the 18th chromosome.
Several mechanisms of aneuploid decrease or increase are well documented in angiosperm evolution, including descending and ascending dysploidy, nullisomy, and tetrasomy
(Stebbins 1950; Darlington 1973; White 1978; Stace 1980; Grant 1981).
of chromosome 22 is a rare multiple congenital anomaly syndrome that is more commonly known as cat-eye syndrome (CES).
Identification of UPD by v-karyotype or chromosomal translocations and tetrasomy
by CG were not considered discrepancies because these are the inherent limitations of each technique.