• Clinical and Experimental Pediatrics
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• 제52권2호
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• pp.242-246
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• 2009

13번 환염색체 증후군은 정신발달의 지체, 성장 장애, 안면부 기형, 중추신경계 기형, 심장기형, 손발의 기형, 골격계 기형 및 항문기형의 특징을 가진다. 많은 수의 13번 환염색체 증후군에 대한 보고가 있었지만 국내에서는 오직 6예의 임상증례 고가 있다. 이들 보고는 모두 순수한 13번 환염색체 증후군을 보고한 것으로 본 저자들은 13번 환염색체 모자이크 현상의 증례를 경험하였다. 산전진찰 상 자궁내 발육지연이 의심되었던 남아에서 안면부기형이 관찰되었으나 이 외에 이학적 검사상 심장 기형, 골격계 및 외부 생식기 기형은 특별히 관찰되지 않았다. 시행한 세포 유전학 검사상 13번 염색체의 ring/monosomy/dicentric 모자이크 현상이 나타났다. 이후에도 근력저하, 성장과 발달지연을 보이고 있다. 저자들은 안면부 기형, 소두증과 대칭성 자궁내 발육지연을 보인 남아에서 13번 환염색체의 모자이크 증후군을 경험하여 기존에 보고된 다른 증례들과 임상 양상을 비교하여 보고하는 바이다.

• Clinical and Experimental Reproductive Medicine
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• 제46권4호
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• pp.206-210
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• 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
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• 제19권1호
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• pp.14-21
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• 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
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• 제4권2호
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• pp.186-189
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• 2007

현재까지 보고 된 유전질환을 포함한 희귀질환은 6000종이 넘으며, 이 중 2007년 12월 현재, 1,500종(임상검사 목적 1,211종과 연구 목적 289)의 유전자 검사가 가능하다. 외국의 경우, 원인 유전자가 밝혀지고 진단이 가능한 모든 유전질환에 대해 착상 전 및 산전 유전자검사가 가능한데 반해, 국내에서는 2005년 제정된 생명윤리 및 안전에 관한 법률 제25조 2항에 의해 착상전 및 산전 유전자검사가 가능한 유전 질환은 63종으로 제한되어 있다. 이 보고에서는, 63종으로 제한된 검사항목에 포함되어 있지 않아 산전 진단을 할 수 없게 된 최근의 증례를 검토하고 문제점과 대안에 대해 논의하였다. X-성염색체 연관 열성질환인 MNK의 보인자로 확진된 L씨(여 38세)는 2명의 자녀를 출산하였는데, 그중 1명은 MNK에 이환된 남아로 출생 후 사망하였다. L씨는 2003년에 산전 유전자검사를 실시하여 정상의 남아를 출산하였다. 현재 임신 중인 L씨는 MNK에 이환된 남아를 또다시 출산할 가능성이 50%로 산전 유전자 검사가 필요하지만, 2005년에 제정된 생명윤리 및 안전에 관한 법률에 의해 산전 유전자검사가 법적으로 불가능하였다. 이 증례는 유전질환 검사항목을 63종으로 제한한 현행법의 문제점과 질환 형평성의 문제점을 실질적으로 보여주고 있다. 질환 명에 상관없이 유전질환의 가족력이 있는 가족에게는 산전 유전자검사에 대한 자기결정의 기회가 제공되어야 할 것이며, 만일, 현행법의 개정이 현실적으로 불가능하다면, MNK처럼 3년 내에 사망에 이르는 등 질병의 정도가 심하며, 효과적인 치료 방법이 없는 질환에 대해서는 산모나 가족이 원하는 경우 전문의의 전문적인 판단에 근거하여 예외가 인정되어야 한다고 사료된다.

• 정신신체의학
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• 제5권1호
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• pp.3-11
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• 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.