Concurrence of ring 21 and trisomy 21 in children of normal parents

Yong Gon Cho; Tae Won Park; Chang Seop Lee; Sam Im Choi

doi:10.3349/ymj.2005.46.2.284

Concurrence of ring 21 and trisomy 21 in children of normal parents

Yong Gon Cho
, Tae Won Park
, Chang Seop Lee
, Sam Im Choi^*

^*Corresponding author for this work

Department of Medicine

Seoul National University
Jeonbuk National University

Research output: Contribution to journal › Journal article › peer-review

2 Scopus citations

Abstract

We present a case of two siblings with different chromosome 21 abnormalities that are both de novo [r(21)/i(21p13) mosaicism and rob(14;21)]. Molecular studies using polymorphic markers have shown that these two aberrations had a common maternal origin. However, the parents were cytogenetically and phenotypically normal. This unusual association has not been reported and is considered to be a unique case that should be addressed.

Original language	English
Pages (from-to)	284-288
Number of pages	5
Journal	Yonsei Medical Journal
Volume	46
Issue number	2
DOIs	https://doi.org/10.3349/ymj.2005.46.2.284
State	Published - 2005.04.30

Keywords

Mental retardation
Ring 21
Trisomy 21

Quacquarelli Symonds(QS) Subject Topics

Medicine

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10.3349/ymj.2005.46.2.284

Cite this

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title = "Concurrence of ring 21 and trisomy 21 in children of normal parents",

abstract = "We present a case of two siblings with different chromosome 21 abnormalities that are both de novo [r(21)/i(21p13) mosaicism and rob(14;21)]. Molecular studies using polymorphic markers have shown that these two aberrations had a common maternal origin. However, the parents were cytogenetically and phenotypically normal. This unusual association has not been reported and is considered to be a unique case that should be addressed.",

keywords = "Mental retardation, Ring 21, Trisomy 21",

author = "Cho, \{Yong Gon\} and Park, \{Tae Won\} and Lee, \{Chang Seop\} and Choi, \{Sam Im\}",

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language = "English",

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T1 - Concurrence of ring 21 and trisomy 21 in children of normal parents

AU - Cho, Yong Gon

AU - Park, Tae Won

AU - Lee, Chang Seop

AU - Choi, Sam Im

PY - 2005/4/30

Y1 - 2005/4/30

N2 - We present a case of two siblings with different chromosome 21 abnormalities that are both de novo [r(21)/i(21p13) mosaicism and rob(14;21)]. Molecular studies using polymorphic markers have shown that these two aberrations had a common maternal origin. However, the parents were cytogenetically and phenotypically normal. This unusual association has not been reported and is considered to be a unique case that should be addressed.

AB - We present a case of two siblings with different chromosome 21 abnormalities that are both de novo [r(21)/i(21p13) mosaicism and rob(14;21)]. Molecular studies using polymorphic markers have shown that these two aberrations had a common maternal origin. However, the parents were cytogenetically and phenotypically normal. This unusual association has not been reported and is considered to be a unique case that should be addressed.

KW - Mental retardation

KW - Ring 21

KW - Trisomy 21

UR - https://www.scopus.com/pages/publications/18644369900

U2 - 10.3349/ymj.2005.46.2.284

DO - 10.3349/ymj.2005.46.2.284

M3 - Journal article

C2 - 15861503

AN - SCOPUS:18644369900

SN - 0513-5796

VL - 46

SP - 284

EP - 288

JO - Yonsei Medical Journal

JF - Yonsei Medical Journal

IS - 2

ER -

Concurrence of ring 21 and trisomy 21 in children of normal parents

Abstract

Keywords

Quacquarelli Symonds(QS) Subject Topics

Access to Document

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