Chromosome 4p Duplication - 의학 (Medicine)

문서의 이전 판을 선택했습니다! 저장하면 이 자료로 새 판을 만듭니다.

====== Chromosome 4p Duplication ======
{{page>틀:의학}}

체염색체 4번 전체 혹은 단완(p)이 3개 있는 것으로 희귀한 염색체 이상이다.

* Chromosome 4, Partial Trisomy 4p
  * Duplication 4p Syndrome
  * Dup(4p) Syndrome

{{http://3.bp.blogspot.com/-knUFUZ9YvHA/UBLOrNl2raI/AAAAAAAAD6A/-yM5YbDZ9No/s1600/Matt%2527s+Chromosomes.jpg| Chromosome 4p Duplication}}

Chromosome 4p Duplication, also known as duplication 4p, is related to wolf-hirschhorn syndrome(deletion of 4p) and myxedema, and has symptoms including intellectual deficit/mental/psychomotor retardation/learning disability, total/partial trisomy/duplication and short stature/dwarfism/nanism. Affiliated tissues include testes and bone.
=====증상=====
이상이 있는 염색체의 양에 따라 다양한 표현형을 나타낸다.

지능저하, 운동기능 저하, 저신장, 골발달미숙 등

신생아는 젖빨기와 숨쉬는 것에 어려움이 있을 수 있다.

얼굴과 두개골에 기형을 동반한다.

{{http://1.bp.blogspot.com/-5mArfVlfmyg/Tw-kR839GpI/AAAAAAAAEjQ/Qx1jxrbFfEY/s640/photo-1.JPG|My name is Erica and my youngest son, Alex, is three and a half. He has a very rare genetic condition; he has a duplication on his 4th chromosome. There is no syndrome or name for his genetic condition. In fact, many doctors have tried to find a similar case and Alex is the only one with this specific condition. This is wonderful in many ways because it means there's no limit to Alex's potential and he gets to show us what he can do without any specific labels. On the other hand, it's tough because we don't know what issues we're dealing with or looking for until we run into trouble. There are no support groups for this specific condition and we don't have anyone to watch to have an idea of what the future holds. But all of this has freed Alex and our family to simply enjoy each day knowing Alex will show us what he's ready for. We are so blessed to have a big and very loving family who surround us on this journey. }}

편집 요약

참고: 이 문서를 편집하면 내용은 다음 라이선스에 따라 배포하는 데 동의하는 것으로 간주합니다: CC Attribution-Noncommercial-Share Alike 4.0 International