Sanger sequencing confirmed that while the proband is hemizygous
for this mutation, his mother is heterozygous for this mutation.
By comparing the behavioral results obtained in this study with literature data (Table 1), we found that heterozygous Cdkl5 KO females develop behavioral abnormalities that are comparable, albeit milder, to defects identified in homozygous Cdkl5 KO (Cdkl5 -/-) female and hemizygous
Cdkl5 KO (Cdkl5 -/Y) male mice.
deletions (2, 0) affect chromosome 11p15.5-p11.12 and 11q11- q13.1.
However, it has been difficult to define the precise population frequencies of the various RH haplotypes because of the inability to differentiate between homo- or hemizygous
HIF [sup]flox/- mice were generated from HIF-1a loxP-flanked allele mouse stocks backcrossed into a C57Bl6/J background, and then crossed into MCK-Cre [sup]+ hemizygous
mice [Figure 1].
Williams-Beuren syndrome (WBS) is a rare multisystem disorder caused by a hemizygous
deletion of the elastin gene on chromosome 7q11.23 .
It is an X-linked disorder, in which hemizygous
males are almost always symptomatic and about 20% of female carriers, may present some neurocognitive deficit depending on lyonization patterns [9,10].
Miners, "Anderson-Fabry disease: clinical manifestations and impact of disease in a cohort of 98 hemizygous
males," Journal of Medical Genetics, vol.
Moreover, the esophagus extrinsic veins drain into the locally corresponding large vessels (the jugular veins or the azygos and hemizygous
veins superiorly and to the left gastric and splenic veins inferiorly).
TRAMP males manifest progressive prostate tumors that begin as early prostatic intraepithelial neoplasia (PIN) and can progress to differentiated adenocarcinoma.
Female [AhR.sup.fl/fl] mice were bred to hemizygous
transgenic male Cre mice under control of an adiponectin/promoter/ enhancer [B6;FVB-Tg(Adipoq-cre)1Evdr/J; The Jackson Laboratory].
Moreover, for RN line all sample were female, showing hemizygous
for this locus.