Cited 0 times in Scipus Cited Count

Familial Xp22.33-Xp22.12 deletion delineated by chromosomal microarray analysis causes proportionate short stature

DC Field Value Language
dc.contributor.authorCho, SY-
dc.contributor.authorKi, CS-
dc.contributor.authorJang, JH-
dc.contributor.authorSohn, YB-
dc.contributor.authorPark, SW-
dc.contributor.authorKim, SH-
dc.contributor.authorKim, SJ-
dc.contributor.authorJin, DK-
dc.date.accessioned2013-05-03T05:51:08Z-
dc.date.available2013-05-03T05:51:08Z-
dc.date.issued2012-
dc.identifier.issn1552-4825-
dc.identifier.urihttp://repository.ajou.ac.kr/handle/201003/8246-
dc.description.abstractPatients with Xp deletions have short stature and may have some somatic traits typical of Turner syndrome (TS), whereas gonadal function is generally preserved. In most studies of these patients, microsatellites have been used to determine the break point of the Xp deletion. In the present study, we describe the clinical, cytogenetic, and chromosomal microarray (CMA) analysis of a family with an Xp22.33-Xp22.12 deletion. Two female siblings, aged 8 years 9 months and 11 years 10 months, presented with short stature. The older sibling's height (index case) was 137.9 cm (-1.81 SDS) and the younger sibling's height was 118.6 cm (-2.13 SDS). The mother and both daughters had only a short stature; a skeletal survey showed normal findings except for mildly shortened 4th and 5th metacarpal bones. No features of TS were present. The deletion appeared terminal with a breakpoint within Xp22.2 located about 19.9 Mb from the Xp telomere. The deletion contained 102 protein-coding genes. A probe of the end breakage point was located at the 19,908,986th base of the X chromosome, and a probe of the marginal normal region near the breakage point was located at the 19,910,848th base of the X chromosome. Therefore, the breakage point was concluded to be located between these two probes. In summary, we report a familial case of an Xp deletion. The findings of our study may be helpful in further analyzing the phenotypes associated with Xp deletions.-
dc.formatapplication/pdf-
dc.language.isoen-
dc.subject.MESHAdult-
dc.subject.MESHChild-
dc.subject.MESHChromosome Deletion-
dc.subject.MESHChromosomes, Human, X-
dc.subject.MESHDwarfism-
dc.subject.MESHFamily-
dc.subject.MESHFemale-
dc.subject.MESHHand Deformities, Congenital-
dc.subject.MESHHumans-
dc.subject.MESHKaryotyping-
dc.subject.MESHMale-
dc.subject.MESHMicroarray Analysis-
dc.subject.MESHSiblings-
dc.titleFamilial Xp22.33-Xp22.12 deletion delineated by chromosomal microarray analysis causes proportionate short stature-
dc.typeArticle-
dc.identifier.pmid22581654-
dc.contributor.affiliatedAuthor손, 영배-
dc.type.localJournal Papers-
dc.identifier.doi10.1002/ajmg.a.35357-
dc.citation.titleAmerican journal of medical genetics. Part A-
dc.citation.volume158A-
dc.citation.number6-
dc.citation.date2012-
dc.citation.startPage1462-
dc.citation.endPage1466-
dc.identifier.bibliographicCitationAmerican journal of medical genetics. Part A, 158A(6). : 1462-1466, 2012-
dc.identifier.eissn1552-4833-
dc.relation.journalidJ015524825-
Appears in Collections:
Journal Papers > School of Medicine / Graduate School of Medicine > Medical Genetics
Files in This Item:
There are no files associated with this item.

qrcode

해당 아이템을 이메일로 공유하기 원하시면 인증을 거치시기 바랍니다.

Items in DSpace are protected by copyright, with all rights reserved, unless otherwise indicated.

Browse