A case report of an infant with Robertsonian translocation (15;22)(q10;q10) and literature review

Research output: Contribution to journalArticle

Abstract

Rob(15; 22) is rare and account for only 0.6% of all Robertsonian translocations. We describe a case with rob(15;22) in which the phenotype includes generalized hypotonia, respiratory distress, tent shaped upper lips, hyporeflexia and single umbilical artery. Chromosome analysis with peripheral blood was performed, while the karyotype was interpreted as 45,XX,der(15;22)(q10;q10). In Prader-Willi/Angelman Syndrome FISH studies, deletion of the SNRPN gene was not observed, but deletion of 15p11.2 was noted. Prader-Willi/Angelman Syndrome methylation-specific polymerase chain reaction and chromosomal microarrays showed negative findings. Molecular studies associated with spinal muscular atrophy and progressive muscular dystrophy also showed negative findings. We suggest that rob(15;22) and deletion of 15p11.2 could be related to clinical presentation like this case.

Original languageEnglish
Pages (from-to)102-105
Number of pages4
JournalAnnals of Clinical and Laboratory Science
Volume46
Issue number1
Publication statusPublished - 2016 Jan 1

Fingerprint

snRNP Core Proteins
Angelman Syndrome
Prader-Willi Syndrome
Methylation
Polymerase chain reaction
Microarrays
Chromosomes
Blood
Single Umbilical Artery
Genes
Spinal Muscular Atrophy
Abnormal Reflexes
Muscle Hypotonia
Muscular Dystrophies
Gene Deletion
Lip
Karyotype
Phenotype
Polymerase Chain Reaction

ASJC Scopus subject areas

  • Clinical Biochemistry
  • Molecular Biology
  • Immunology
  • Microbiology
  • Hematology
  • Immunology and Allergy
  • Pathology and Forensic Medicine
  • Medical Laboratory Technology

Cite this

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abstract = "Rob(15; 22) is rare and account for only 0.6{\%} of all Robertsonian translocations. We describe a case with rob(15;22) in which the phenotype includes generalized hypotonia, respiratory distress, tent shaped upper lips, hyporeflexia and single umbilical artery. Chromosome analysis with peripheral blood was performed, while the karyotype was interpreted as 45,XX,der(15;22)(q10;q10). In Prader-Willi/Angelman Syndrome FISH studies, deletion of the SNRPN gene was not observed, but deletion of 15p11.2 was noted. Prader-Willi/Angelman Syndrome methylation-specific polymerase chain reaction and chromosomal microarrays showed negative findings. Molecular studies associated with spinal muscular atrophy and progressive muscular dystrophy also showed negative findings. We suggest that rob(15;22) and deletion of 15p11.2 could be related to clinical presentation like this case.",
author = "Cho, {Chy Hyun} and Shin, {Jung Hee} and Myung-Hyun Nam and Lim, {Chae Seung} and Lee, {Chang Kyu} and Yunjung Cho and Kim, {Young Kee} and Soo-Young Yoon",
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T1 - A case report of an infant with Robertsonian translocation (15;22)(q10;q10) and literature review

AU - Cho, Chy Hyun

AU - Shin, Jung Hee

AU - Nam, Myung-Hyun

AU - Lim, Chae Seung

AU - Lee, Chang Kyu

AU - Cho, Yunjung

AU - Kim, Young Kee

AU - Yoon, Soo-Young

PY - 2016/1/1

Y1 - 2016/1/1

N2 - Rob(15; 22) is rare and account for only 0.6% of all Robertsonian translocations. We describe a case with rob(15;22) in which the phenotype includes generalized hypotonia, respiratory distress, tent shaped upper lips, hyporeflexia and single umbilical artery. Chromosome analysis with peripheral blood was performed, while the karyotype was interpreted as 45,XX,der(15;22)(q10;q10). In Prader-Willi/Angelman Syndrome FISH studies, deletion of the SNRPN gene was not observed, but deletion of 15p11.2 was noted. Prader-Willi/Angelman Syndrome methylation-specific polymerase chain reaction and chromosomal microarrays showed negative findings. Molecular studies associated with spinal muscular atrophy and progressive muscular dystrophy also showed negative findings. We suggest that rob(15;22) and deletion of 15p11.2 could be related to clinical presentation like this case.

AB - Rob(15; 22) is rare and account for only 0.6% of all Robertsonian translocations. We describe a case with rob(15;22) in which the phenotype includes generalized hypotonia, respiratory distress, tent shaped upper lips, hyporeflexia and single umbilical artery. Chromosome analysis with peripheral blood was performed, while the karyotype was interpreted as 45,XX,der(15;22)(q10;q10). In Prader-Willi/Angelman Syndrome FISH studies, deletion of the SNRPN gene was not observed, but deletion of 15p11.2 was noted. Prader-Willi/Angelman Syndrome methylation-specific polymerase chain reaction and chromosomal microarrays showed negative findings. Molecular studies associated with spinal muscular atrophy and progressive muscular dystrophy also showed negative findings. We suggest that rob(15;22) and deletion of 15p11.2 could be related to clinical presentation like this case.

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