• Clinical and Experimental Pediatrics
• /
• v.52 no.2
• /
• pp.242-246
• /
• 2009

The clinical features of ring chromosome 13 include mental and growth retardation, CNS anomalies, facial dysmorphism, cardiac defects, genital malformations, limb anomalies, skeletal deformities and anal malformations. Although many cases of ring chromosome 13 have been reported worldwide, only 6 cases have been reported in Korea, and the latter cases were not mosaic but pure ring chromosome 13. Here we report a case with mosaic ring chromosome 13. The baby boy was born at 37 weeks of gestation by induced vaginal delivery due to intrauterine growth restriction (IUGR). He was the second baby of a 28-year-old hepatitis B carrier mother and a 32-year-old father. There was no family history of chromosomal anomalies. The baby was a symmetric IUGR with a birth weight of 1,860 g, length of 44.8 cm, and head circumference of 29.4 cm. The physical examination revealed microcephaly, trigonocephaly, flat occiput, large ears, short neck and dysmorphic facial features, including microophthalmia, hypertelorism, antimongoloid slanting palpebral fissures, a flat nasal bridge, and micrognathia. The karyotype of this patient performed by peripheral blood lymphocytes was 46,XY,r(13)(p13q34)/45,XY,-13/46,XY,dic r(13;13)(p13q34;p13q34). The baby showed failure to thrive, hypotonia, and developmental delay. We report the first case of mosaic ring chromosome 13 in a male baby in Korea and compare this case with other Korean cases of non-mosaic ring chromosome 13.

• Clinical and Experimental Reproductive Medicine
• /
• v.46 no.4
• /
• pp.206-210
• /
• 2019

Mucopolysaccharidosis type II (MPS II) is a rare X-linked recessive lysosomal storage disease caused by mutation of the iduronate-2-sulfatase gene. The mutation results in iduronate-2-sulfatase deficiency, which causes the progressive accumulation of heparan sulfate and dermatan sulfate in cellular lysosomes. The phenotype, age of onset, and symptoms of MPS II vary; accordingly, the disease can be classified into either the early-onset type or the late-onset type, depending on the age of onset and the severity of the symptoms. In patients with severe MPS II, symptoms typically first appear between 2 and 5 years of age. Patients with severe MPS II usually die in the second decade of life although some patients with less severe disease have survived into their fifth or sixth decade. Here, we report the establishment of a preimplantation genetic diagnosis (PGD) strategy using multiplex nested polymerase chain reaction, direct sequencing, and linkage analysis. Unaffected embryos were selected via the diagnosis of a single blastomere, and a healthy boy was delivered by a female carrier of MPS II. This is the first successful application of PGD in a patient with MPS II in Korea.

• Journal of Genetic Medicine
• /
• v.19 no.1
• /
• pp.14-21
• /
• 2022

Complex chromosome rearrangements (CCRs) are structural chromosomal rearrangements involving at least three chromosomes and more than two breakpoints. CCR carriers are generally phenotypically normal but related to higher risk of recurrent miscarriage and having abnormal offspring with congenital anomalies. However, most of CCR carriers are not aware of their condition until genetic analysis of either abortus or affected baby or parental karyotyping is performed. Herein, we present the case that CCR carrier patients can be identified by preimplantation genetic testing of preimplantation embryos. An infertile male patient with severe oligoasthenoteratozoospermia was diagnosed balanced reciprocal translocation, 46,XY,t(3;11) (p26;p14) at first. After attempting the first preimplantation genetic testing for structural rearrangement (PGT-SR) cycle, we found the recurrent segmental gain or loss on 21q21.3-q22.3 of five out of nine embryos. As a result of karyotype re-analysis, the patient's karyotype showed a balanced CCR involving chromosomes 3, 11, and 21 with three breakpoints 3p26, 11p14, and 21q21. The patient underwent two PGT-SR cycles, and a pregnancy was established after the transfer of an euploid embryo in the second cycle. Amniocentesis confirmed that the baby carried normal karyotype without mosaicism. At 37 weeks gestation, a healthy girl weighting 3,050 g was born.

• Journal of Genetic Medicine
• /
• v.4 no.2
• /
• pp.186-189
• /
• 2007

More than 6,000 rare disorders including genetic diseases have been reported. Of them, 1,500 diseases (1,211 for clinical diagnosis and 289 for research only) are technically possible for genetic testing. In Korea, since 2005, only 63 genetic diseases is permitted for prenatal genetic testing by the "Bioethics and Biosafety Law". The article 25 in the law prescribes 63 genetic diseases without clear indication for its selection and inclusion criteria. In EU, USA, and other foreign countries, however, there is no provision in the statute on prenatal genetic testing; it is not restricted by a law. Recently, a woman (Mrs. L, 38y) who is a carrier for Menkes disease made an appeal to a government for an amendment of the "Bioethics and Biosafety Law" prohibiting the prenatal diagnosis of her pregnancy at risk for Menkes disease. Menkes disease (MNK) is an X-linked recessive disorder characterized by neurodegeneration, connective tissue defects and hair abnormalities, and no effective treatment is available yet. The prevalence rate of MNK is one in about 250,000 live births. Menkes syndrome patients fail to absorb copper from the gastrointestinal tract in quantities adequate for meeting nutritional needs. These needs seem particularly acute during the initial 12 month of life, when the velocity of brain growth and motor neurodevelopment. Most of pts. die around 3yrs. of age. Mrs. L had a boy with Menkes disease who died at 2y.o. in 2001. Subsequent pregnancy in 2003, she was able to have prenatal genetic testing for mutation of the Menkes (ATP7A) gene and delivered a healthy baby boy. Now, She is pregnant again and wants to have prenatal diagnosis. however, this time, she was not allowed to have any more because Menkes disease is not included in 63 genetic diseases permitted by the law for prenatal genetic testing, in spite of the fact that she is a Menkes disease carrier and her pregnancy is at risk to have an affected baby. This case shows the practical problem of the legal restriction for prenatal genetic testing in Korea. In this study, we report a arguable case and discuss the controversial issues in the legal restriction for prenatal genetic testing in Korea.

• Korean Journal of Psychosomatic Medicine
• /
• v.5 no.1
• /
• pp.3-11
• /
• 1997

In becoming parents, the marital partners enter into a new developmental phase. The conception of the child is an act of mutual creativity during which the boundaries between the self and another were temporarily obliterated more completely than at any time since infancy. The infant is a physical fusion of the parents, and their personalities unite within the child. for many women, creativity as a mother becomes a central matter that provides meaning and balance to their lives. The husband usually has strong desires for an offspring and can be transformed by it. The child can profoundly affect one or both parents, and the influences are reciprocal-a child's needs or specific difficulties uncover a parent's inadequacy. following the child's development, each transition into a new developmental phase requires an adaptation by the parents, and one or another of these required adaptations may disturb a parent's equilibirium. And the personality changes, emotional difficulties, and regressions of a spouse that occur in response to some phase of parenthood can upset the marriage. Not only do children identify with parents, but parents also identify with their children. The parents take pleasure in child's joy and suffer with the child's pain more than in almost any other relationship. certain respects e parents lives again in the child. Through the process of identification the child can also provide one of the two parents with the opportunity to experience intimately the way in which a person of the opposite gender grows up. Parenthood also provides the opportunity to be loved, admired, and needed simply because one is a parent and, as such, a central and necessary object in the young child's life. The many potentialities for emotional satisfactions from parenthood manage to outweigh the tribulations and sacrifices that are required. The child also exerts an indirect effect through changing the parent's position in the society, for new sets of relationships are established as the parents are drawn to other couples with children of the same age, and for a new impetus toward economic and social mobility often possesses the parents. frequently the couple's relatedness to their own parents improves and grows firmer once again. Parenthood, the satisfactions it provides and the demands it makes, varies as life progresses : and changes with the parent's interests, needs, and age as well as with the children's maturation. There are phases in the child's life that the parents are reluctant to have pass, whereas they tolerate others largely through knowing that they will soon be over. The changing lives of the children provide many satisfactions that offset the tribulations, uncertainties, and regrets. The parents change. The young father, who was just starting on his carrier whom the first child was born, settles into a life pattern. He becomes secure with increasing achievement and interacts differently with the youngest child and provides a different model for him than for the oldest. The mother may have less time for a second or third child than for her first, but she may also be more assured in her handling of them. The birth of a baby when the parents art in their late thirties will find them Less capable of physical exertion with the child and less tolerant of annoyances, but they are less apt to be annoyed. Eventually the children min and leave home, but the couple do not cease to be parents.