In patients with structural aberrations of the sex chromosomes a direct relation has been found between the phenotype and the extent and site of sex chromosomal deletion (Ferguson-Smith, 1965,1969). Women with deletion of the short arm of the X chromosome invariably have short stature and streak gonads, and usually have several of the other malformations of Turner's syndrome, while those whoseX...

In the course of evolution Y chromosome has acquired an important role in sex determination owing to the differentiation of the SRY gene from its X homologue. Apart from the functionally specialized SRY gene, the Y chromosome harbors several genes responsible for normal fertility. Three different spermatogenic loci namely AZFa, AZFb and AZFc located in the long arm of Y chromosome (Yq) has the ...

Deletions of the Y chromosome are a significant cause of spermatogenic failure. Three major deletion intervals have been defined and termed AZFa, AZFb and AZFc. Here, we report an unusual case of a proximal AZFb deletion that includes the Y chromosome palindromic sequence P4 and a novel heat shock factor (HSFY). This deletion neither include the genes EIF1AY, RPS4Y2 nor copies of the RBMY1 gene...

Received 14 January 1997 Revised version accepted for publication 28 May 1997 Abstract Y chromosome molecular analysis was performed using the STS-PCR technique in 50 patients with oligozoospermia. Microdeletions of interval 6 of the Y chromosome were detected in seven patients, in six ofwhom subinterval E was affected. All patients retained the RBM1 and DAZ genes, while in one deletion involve...

Y chromosome molecular analysis was performed using the STS-PCR technique in 50 patients with oligozoospermia. Microdeletions of interval 6 of the Y chromosome were detected in seven patients, in six of whom subinterval E was affected. All patients retained the RBM1 and DAZ genes, while in one deletion involved the SPGY gene. The size of the deletion was not apparently related to the severity o...

Infertile men with azoospermia commonly have associated microdeletions in the azoospermia factor (AZF) region of the Y chromosome, sex chromosome mosaicism, or sex chromosome rearrangements. In this study, we describe an unusual 46,XX and 45,X mosaicism with a rare Y chromosome rearrangement in a phenotypically normal male patient. The patient's karyotype was 46,XX[50]/45,X[25]/46,X,der(Y)(pter...

Mice derived entirely from embryonic stem (ES) cells can be generated through tetraploid complementation. Although XY male ES cell lines are commonly used in this system, occasionally, monosomic XO female mice produced spontaneous Y chromosome loss. Here, we describe an efficient method to obtain by CRISPR-Cas9-mediated deletion of the chromosome, allowing generation clonal The viable and able ...

We present a patient with partial monosomy of the short arm of chromosome 18 caused by de novo translocation t(Y;18) and a generalized form of keratosis pilaris (keratosis pilaris affecting the skin follicles of the trunk, limbs and face-ulerythema ophryogenes). Two-color FISH with centromere-specific Y and 18 DNA probes identified the derivative chromosome 18 as a dicentric with breakpoints in...

Y chromosome microdeletions are the most frequent genetic cause of severe oligozoospermia (,5 million spermatozoa/ml) and azoospermia (absence of spermatozoa in the ejaculate). Microdeletions associated with infertility occur in specific regions of the long arm of the Y chromosome, called azoospermia factor (AZF) regions. 3 In 1996, three types of AZF deletion (AZFa, AZFb, and AZFc) were descri...

Y chromosome microdeletions are the most frequent genetic cause of severe oligozoospermia (,5 million spermatozoa/ml) and azoospermia (absence of spermatozoa in the ejaculate). Microdeletions associated with infertility occur in specific regions of the long arm of the Y chromosome, called azoospermia factor (AZF) regions. 3 In 1996, three types of AZF deletion (AZFa, AZFb, and AZFc) were descri...