hemizygous


Also found in: Dictionary, Medical, Wikipedia.

hemizygous

[¦he·mē¦zī·gəs]
(genetics)
In diploid organisms, the presence of single copy of a gene; it may be a result of deletion or chromosome loss, or simply may reflect the presence of a single copy of a sex chromosome, such as the X in male mammals.
Mentioned in ?
References in periodicals archive ?
NCV ND Normal patterns EMG ND Normal patterns As worth spasticity UL / IL 4 UL 1+ / IL 2 indexUL 2 /IL 4 c.140T>C c.609C> PLP1 molecular (p.I47T) T (p.Q99X) analysis hemizygous hemizygous Paraclinical evaluation 2.
Afterwards, testing for Fabry disease was performed: alpha-galactosidase level was decreased (0.06 nmol/spot/21 h; normal range >0.12 nmol/spot/21 h), lyso-GL-3 was increased (36.1 ng/mL; normal range 0.0-3.5 ng/mL), and a hemizygous mutation was detected (c.[902G>T]) (Figures 2(a)-2(c)) [12].
In addition, promoter hypermethylation and hemizygous deletion of KLF4 are also reported by researchers, leading to its expression suppression [17].
Hemizygous mutations of AVPR2 were identified in all three male patients (Figure 2).
Hasegawa, "Syndromic disorder of sex development due to a novel hemizygous mutation in the carboxyl-terminal domain of ATRX," Human Genome Variation, vol.
Male family members with the hemizygous mutation in the PLS3 gene usually present osteoporosis and fractures of the axial and appendicular skeleton in childhood, while female family members with heterozygous mutations have a wide variety of presentations, ranging from normal bone density and an absence of fractures to early-onset osteoporosis and vertebral compression fractures [2-6].
W.) Chiang et al., "The effect on retinal structure and function of 15 specific ABCA4 mutations: a detailed examination of 82 hemizygous patients," Investigative Ophthalmology & Visual Science, vol.
Moreover, the putative skewing toward the mutated X chromosome found in the hippocampus of heterozygous females (decreased levels of Cdkl5 ~ 36%) could explain the severe phenotypic outcome in hippocampus-dependent behaviors that is more similar to homozygous Cdkl5 KO female and hemizygous Cdkl5 KO male mice (Table 1) [20, 35, 61].
Interestingly, ATM maps on chromosome 11q whose hemizygous deletion, together with the loss of chromosome 1p [32], the gain of chromosome 17q [33], and the amplification of both MYCN [34] and ALK [35, 36], is a well-established marker of NB poor prognosis.
For hemizygous D + fathers, noninvasive prenatal testing (NIPT) is required for further analysis.
HIF [sup]flox/- mice were bred with muscle creatine kinase ( MCK )- Cre [sup]+ hemizygous mice to create HIF [sup]flox/- Cre [sup]+ mice.
Hemizygous [gp91.sup.phox-/y] mice (Nox2 knockout (#2365), C57BL/6 background, Jackson Laboratories, Bar Harbor, ME) were generated as described previously [20] and C57BL/6 mice were used as the corresponding wild type controls.