• Clinical and Experimental Pediatrics
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• v.46 no.8
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• pp.831-835
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• 2003

Holoprosencephaly of unknown definite causes, has been associated with several chromosome abnormalities involving the autosomes and the sex chromosomes. The most commonly reported associations include dup(3p), del(7q), deletions of chromosome 13, trisomy 13, trisomy 18, and triploidy. In previously reported cases in Korea, none were associated with chromosome 21 anomalies. In conclusion, we reported the first case of holoprosencephaly(semilobar type) associated with pure monosomy 21. We experienced a semilobar type holoprosencephaly with monosomy 21 in a neonate who had multiple congenital anomalies, including an abnormal face, a small thorax with widely spaced hypoplastic nipples and nail hypoplasia, lung hypoplasia with severe scoliosis and cardiac abnormalities. Chromosomal analysis revealed a 45, XY, -21.

• Journal of Veterinary Clinics
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• v.19 no.3
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• pp.357-359
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• 2002

Male pseudohermaphrodites is one of abnormalities of phenotypic sex and have an XY chromosome constitution and testes, but the internal or external genitalia are to some degree those of a female. We surveyed one case which were referred in Veterinary Medical Teaching Hospital of Seoul National University. When patient was purchased, its phenotype was entirely female that have female external genitalia. However, from the age of 6 months, clitoris was gradually increased to Os clitoris, and patients showed male behavior. Critical clinical sign was trauma of protruded Os clitoris. In radiographic and ultrasonographic examination, he had normal vagina and urinary bladder. In chromosome examination, he had an XY chromosome constitution. This case was performed removal of Os clitoris and ovariohysterectomy.

• Journal of Animal Science and Technology
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• v.47 no.3
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• pp.317-324
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• 2005

A method for sex determination of pigs was examined using polymerase chain reaction(PCR). Sex determining region Y(SRY) gene encoded on Y chromosome plays a key role for primary male development. Zinc finger X-Y(ZFX-ZFY) gene, one of the X-V homology gene group was found on the X and Y chromosomes, respectively, We tested for molecular sexing by amplification patterns of SRY and ZF genes. Genomic DNAs from various resources including porcine hairs and semen collected from domestic pig breeds and native pigs was used for PCR assay of each gene. The amplified products for porcine SRY gene were yielded only in males but not in females. On the other hand, two differential patterns were observed in amplification of ZF gene reflecting the chromosomal dimorphism by a length polymorphism between X and Y chromosomes. Of both, a common band was detected in all individuals tested so that this band might be amplified from ZFX gene as a PCR template, but another is specific for males indicated that from ZFY. The result of PCR assay provides identical information to that from investigation of phenotypic genders of the pigs tested. We suggest that this PCR strategy to determine porcine sexes using comparison of the amplification patterns of the SRY gene specific for Y chromosome and the dimorphic ZF gene between X and Y chromosomes may be a rapid and precise method for discrimination of two sexes and applied to DNA analysis of small samples such as embryonic blastomere, semen, and hairs.

• Biomedical Science Letters
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• v.15 no.4
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• pp.363-368
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• 2009

One of the frequent occurrences in rearrangements is chromosome inversion. Pericentric inversion is considered to be the variant of normal karyotype. We investigated the karyotypes of 1195 cases being referred to prenatal diagnosis using standard GTG banding for karyotype preparation. The chromosomal analysis revealed a total of 15 (1.26%) inversions. The characteristics of inversion type [(inv(4), inv(8), inv(9), inv(11)) were investigated on the basis of chromosomal analyses of fetuses and their parents. The results from chromosomal examination of the parents, whose fetuses were diagnosed as inversion, show that either parent might be the carrier. Inversion in human chromosome is commonly seen in normal humans and the frequency estimated to be 1 to 2% in general population and the exact amount of this phenomenon is still unclear. These results indicate that inv(8), inv(9), and inv(11) are phenotypically normal. However these may often cause clinical problems in offspring of the carrier, such as fetal wastage repeated spontaneous abortions and infertility with unknown mechanisms related to sex. We describe an inversion of human chromosome and its clinical correlation with human genetic disease.

• Interdisciplinary Bio Central
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• v.6 no.4
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• pp.2.1-2.7
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• 2014

Sexual dimorphism in intelligence suggests that this phenotype is a sexually selected trait. This view is supported by an overrepresentation (compared to the autosomal genome) of genes affecting cognition on the X chromosome. The aim of this study is to test the hypothesis that sexual selection can explain sex and country-level differences in performance on tests of fluid intelligence. Nationally representative samples from N = 44 countries were obtained from the Programme for International Student Assessment (PISA) Creative Problem Solving (CPS), which evaluates the core of intelligence, that is novel problem solving ability. Sexual selection has the double effect of increasing the prevalence of a favored phenotype and reducing genetic variation in sexually selected traits. Matching these predictions from evolutionary theory, the average country fluid intelligence is positively correlated to sexual dimorphism after partialling out per capita GDP and the latter in turn is inversely correlated to variance in intelligence scores within populations. Males have a higher variance than females but there is a negative correlation between male-female difference in variance and sexual dimorphism in intelligence, suggesting that selection reduces variance more in the selected sex. Average country male height is negatively correlated to sexual dimorphism in intelligence, a fact that supports the notion of a trade-off between physical and intellectual competition in the context of access to females. The results of this study, if replicated, imply that genome-wide association studies of cognition may benefit from a focus on sex chromosomes, which so far have been neglected. Another implication of this study is that intelligence has continued to evolve after different human populations migrated out of Africa and possibly up to the 19th century, as suggested by the substantial variability in sex differences even between neighbouring countries.

• Journal of Oral Medicine and Pain
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• v.33 no.1
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• pp.59-66
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• 2008

Ribosomal Protein S4Y(RPS4Y) gene is the human sex-linked gene on the Y chromosome. There are a number of reports on the sex determination using RPS4Y gene analysis for prevention and diagnosis in sex-linked disease. Thus RPS4Y gene is a reliable genetic marker for sex determination in forensic medicine. In general, the sex determination of an unidentified body can be achieved based on anatomical characteristics, but sometimes sex determination was considered to be difficult such as pre-adolescent bodies or decomposed, mutilated bodies. In this case, Sex determination using PCR method in human teeth produces good results. Because human teeth have a great structural durability, the DNA well preserved in the teeth. So author isolated nuclear DNA from the 20 human teeth(10 males, 10 females), performed to detect RPS4Y gene by PCR method. Samples were divided four group(10 pulp and 10 dentinal tissue in male, 10 pulp and 10 dentinal tissue in female). It was found that detection of RPS4Y gene for sex determination was possible in all the male pulp tissues and 6 out of 10 male dentinal tissues. But there was not detected in female pulp and dentinal tissues. In the view of this results demonstrates the possibility that detection of RPS4Y gene with other sex chromosome genes from the human teeth is useful to sex determination in forensic medicine.

• Clinical and Experimental Reproductive Medicine
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• v.26 no.3
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• pp.467-474
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• 1999

Objectives: Cytogenetic investigations were carried out on 770 women with primary (n=560) and secondary amenorrhea (n=210) to determine the frequency of chromosomal or genetic causes of amenorrhea. Materials and Methods: In 770 women with primary amenorrhea (n=560) and secondary amenorrhea (n=210), chromosomal analysis were performed. Results: 1) The most prevalent age group is 16-20 years of age group with primary amenorrhea and 26-30 years of age group with secondary amenorrhea. 2) Out of 560 cases of primary amenorrhea, 343 cases (61.3%) had the normal chromosome constitution and 217 cases (38.7%) had the abnormal chromosome constitution including 46,XY. 3) In 217 cases of abnormal chromosome of primary amenorrhea, 57 cases (26.3%) had 45,X and 34 cases (15.8%) had the 46,XY, 24 cases (11.0%) had 45,X/46,X,i (Xq), 23 cases (10.6%) had 45,X/46,X,+mar and 14 cases (6.6%) had 45,X/46,XY. 4) Out of 210 cases of secondary amenorrhea, 181 cases (86.2%) had the normal chromosome constitution and 29 cases (13.8%) had the abnormal chromosome. 5) In 29 cases of abnormal chromosome of secondary amenorrhea, 7 cases (24.1%) had 45,X/46, X,i (Xq), 4 cases (13.8%) had 45,X/46,XX. Conclusion: High percentage of chromosomal abnormalities was diagnosed in primary amenorrhea and most of them were sex chromosome anomalies. In secondary amenorrhea, the prevalence was lower than primary amenorrhea, so a preselection of patients with secondary amenorrhea for cytogenetic investigations seems to be necessary.

• Asian-Australasian Journal of Animal Sciences
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• v.14 no.11
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• pp.1647-1654
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• 2001

In poultry, the selection against broodiness took up presumably naturally occurred mutations in the White Leghorn breed and led to an almost complete loss of the avian form of parental behaviour (incubation of eggs). Early studies on the genetics of broodiness demonstrated that the trait is polygenic with a major sex-linked effect. The reassessment of the studies on putative genes located on the Z chromosome, which are implicated in the control of broodiness, has resulted in the denial of this hypothesis. The recent experiments bear witness that incubation behaviour in chickens is not controlled by a major gene (or genes) on Z chromosome and there must, therefore, be major autosomal genes contributing to the expression of the behaviour. If a broody gene does exist on the Z chromosome it is one of at least three genes including two dominant autosomal genes, one causing and other one inhibiting incubation behaviour, with probably equal influence.

• Fisheries and Aquatic Sciences
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• v.10 no.1
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• pp.24-29
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• 2007

Our objective was to clarify the cytogenetic characteristics, including karyotypes, cellular DNA content, and nuclear size of erythrocytes, of black plaice Pleuronectes obscurus, dotted gizzard shad Konosirus punctatus, and perch sculpin Pseudoblennius percoides, collected from the coastal areas of Jo Island, Busan, Korea. Karyotypes of P. obscurus and K. punctatus both had a diploid number of 48 and a fundamental number (FN) of 48, with a chromosome formula of 48T. The karyotype of p. percoides had a diploid number of 46 and FN of 56, with a chromosome formula of 10SM +36T. No sex-associated heteromorphic pairs were detected for any species. The variation in DNA values (P. obscurus=1.15 pg/nucleus, K. punctatus=1.56pg/nucleus, P. percoides=1.11 pg/nucleus) was positively related to variation in chromosome FN.

• Journal of Korean Society of Forest Science
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• v.84 no.2
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• pp.131-144
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• 1995

To determine the structure of chromosome and to identify the sex chromosome of Ginkgo biloba and G. biloba var. fastigiata, the samples were obtained from root tips of trees growing in seven different provinences. The results are as follows. The basic number of somatic chromosomes was 2n=24. The range of a relative length of long chromosome was between $14.88{\sim}11.18{\mu}m$ and that of short chromosome was $8.11{\sim}6.24{\mu}m$. The chromosome sets were composed with one long pairs of m type and 11 short pairs of sm or st type. These short pairs showed the continuous descending in length. There was a satellite on the short arm of the Longest chromosome pair, and were satellites of the one or both long arm of 7th or 8th chromosome pair which were sm or st type, or the shortest st type chromosome pair. Sometimes, a satellite on the short arm of the longest chromosome pairs of Ginkgo biloba was double satellite, but that of G. biloba var. fastigiata was not. Karyotype was $2n=24=2^{2s}A^m+2B^{st\;or\;sm}+2C^{st}+2D^{st}+2E^{st}+2F^{st\;or\;sm}+2G^{sm}+2^{2s}H^{sm}\;or\;(^{1s}H^{sm}+H^{sm})+2I^{st}+2J^{st}+2K^{st}+2^{2s}L^{st}\;or\;(^{1s}L^{st}+L^{st})$. The male and female trees were not apparently distinguished by the chromsome structures. However the differences between the satellites could be used to identify the male and females. The male tree has double satellite on short arm of a longest chromosome pairs and females' has not. Also female trees have a satellite on a short chromosome more frequently than male trees.