A paternally derived inverted duplication of distal 14q with a terminal 14q deletion

Chih Ping Chen; Schu Rern Chern; Shuan Pei Lin; Chyi Chyang Lin; Yueh Chun Li; Tzu Hao Wang; Chen Chi Lee; Chen Wen Pan; Lie Jiau Hsieh; Wayseen Wang

doi:10.1002/ajmg.a.30997

A paternally derived inverted duplication of distal 14q with a terminal 14q deletion

Chih Ping Chen^*, Schu Rern Chern, Shuan Pei Lin, Chyi Chyang Lin, Yueh Chun Li, Tzu Hao Wang, Chen Chi Lee, Chen Wen Pan, Lie Jiau Hsieh, Wayseen Wang

^*Corresponding author for this work

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

29 Scopus citations

Abstract

A girl presented with a phenotype including neonatal hypotonia, psychomotor retardation, mental retardation, short stature, and facial dysmorphism. She demonstrated common features of both 14q31-qter duplication and terminal 14q deletion. She had undergone surgery for patent ductus arteriosus and pyloric stenosis in infancy. Her karyotype was 46,XX,der(14) dup(14)(q32.3 q31.3)del(14)(q32.3). Molecular cytogenetic analysis showed a paternally derived 14q31.3-q32.3 duplication and a terminal 14q deletion and led to the correlations between a particular genotype and phenotype. This is the first description of a deletion and inverted duplication of 14q, and adds 14q to the growing list of the inverted duplication associated with a terminal deletion.

Original language	English
Pages (from-to)	146-150
Number of pages	5
Journal	American Journal of Medical Genetics, Part A
Volume	139 A
Issue number	2
DOIs	https://doi.org/10.1002/ajmg.a.30997
State	Published - 2005
Externally published	Yes

Keywords

Chromosome 14q
Deletion 14q
Inverted duplication 14q
Pyloric stenosis

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title = "A paternally derived inverted duplication of distal 14q with a terminal 14q deletion",

abstract = "A girl presented with a phenotype including neonatal hypotonia, psychomotor retardation, mental retardation, short stature, and facial dysmorphism. She demonstrated common features of both 14q31-qter duplication and terminal 14q deletion. She had undergone surgery for patent ductus arteriosus and pyloric stenosis in infancy. Her karyotype was 46,XX,der(14) dup(14)(q32.3 q31.3)del(14)(q32.3). Molecular cytogenetic analysis showed a paternally derived 14q31.3-q32.3 duplication and a terminal 14q deletion and led to the correlations between a particular genotype and phenotype. This is the first description of a deletion and inverted duplication of 14q, and adds 14q to the growing list of the inverted duplication associated with a terminal deletion.",

keywords = "Chromosome 14q, Deletion 14q, Inverted duplication 14q, Pyloric stenosis",

author = "Chen, {Chih Ping} and Chern, {Schu Rern} and Lin, {Shuan Pei} and Lin, {Chyi Chyang} and Li, {Yueh Chun} and Wang, {Tzu Hao} and Lee, {Chen Chi} and Pan, {Chen Wen} and Hsieh, {Lie Jiau} and Wayseen Wang",

year = "2005",

doi = "10.1002/ajmg.a.30997",

language = "英语",

volume = "139 A",

pages = "146--150",

journal = "American Journal of Medical Genetics, Part A",

issn = "1552-4825",

publisher = "John Wiley and Sons Inc",

number = "2",

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TY - JOUR

T1 - A paternally derived inverted duplication of distal 14q with a terminal 14q deletion

AU - Chen, Chih Ping

AU - Chern, Schu Rern

AU - Lin, Shuan Pei

AU - Lin, Chyi Chyang

AU - Li, Yueh Chun

AU - Wang, Tzu Hao

AU - Lee, Chen Chi

AU - Pan, Chen Wen

AU - Hsieh, Lie Jiau

AU - Wang, Wayseen

PY - 2005

Y1 - 2005

N2 - A girl presented with a phenotype including neonatal hypotonia, psychomotor retardation, mental retardation, short stature, and facial dysmorphism. She demonstrated common features of both 14q31-qter duplication and terminal 14q deletion. She had undergone surgery for patent ductus arteriosus and pyloric stenosis in infancy. Her karyotype was 46,XX,der(14) dup(14)(q32.3 q31.3)del(14)(q32.3). Molecular cytogenetic analysis showed a paternally derived 14q31.3-q32.3 duplication and a terminal 14q deletion and led to the correlations between a particular genotype and phenotype. This is the first description of a deletion and inverted duplication of 14q, and adds 14q to the growing list of the inverted duplication associated with a terminal deletion.

AB - A girl presented with a phenotype including neonatal hypotonia, psychomotor retardation, mental retardation, short stature, and facial dysmorphism. She demonstrated common features of both 14q31-qter duplication and terminal 14q deletion. She had undergone surgery for patent ductus arteriosus and pyloric stenosis in infancy. Her karyotype was 46,XX,der(14) dup(14)(q32.3 q31.3)del(14)(q32.3). Molecular cytogenetic analysis showed a paternally derived 14q31.3-q32.3 duplication and a terminal 14q deletion and led to the correlations between a particular genotype and phenotype. This is the first description of a deletion and inverted duplication of 14q, and adds 14q to the growing list of the inverted duplication associated with a terminal deletion.

KW - Chromosome 14q

KW - Deletion 14q

KW - Inverted duplication 14q

KW - Pyloric stenosis

UR - http://www.scopus.com/inward/record.url?scp=33645840170&partnerID=8YFLogxK

U2 - 10.1002/ajmg.a.30997

DO - 10.1002/ajmg.a.30997

M3 - 文章

C2 - 16278896

AN - SCOPUS:33645840170

SN - 1552-4825

VL - 139 A

SP - 146

EP - 150

JO - American Journal of Medical Genetics, Part A

JF - American Journal of Medical Genetics, Part A

IS - 2

ER -

A paternally derived inverted duplication of distal 14q with a terminal 14q deletion

Abstract

Keywords

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