Staff View: De novo Ring Chromosome 6 in a Child with Multiple Congenital Anomalies

De novo Ring Chromosome 6 in a Child with Multiple Congenital Anomalies

Ring chromosome 6, especially if it is de novo, is a rare occurrence. The phenotype of patients with ring chromosome 6 can be highly variable ranging from almost normal to severe malformations and mental retardation. The size and structure of the ring chromosome as well as the level of mosaicism...

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Main Authors:	Ahmad, Ahzad Hadi, Ramli, Siti Fatimah, Tan, May Loong, Salahshourifar, Iman, Alwi, Zilfalil, Mohd Yusoff, Narazah
Format:	Article
Language:	English
Published:	Kobe University School of Medicine 2010
Subjects:	QH426-470 Genetics RC Internal medicine
Online Access:	http://eprints.usm.my/37227/1/E79.pdf http://eprints.usm.my/37227/ http://www.med.kobe-u.ac.jp/journal/contents/56/E79.pdf
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id	my.usm.eprints.37227
record_format	eprints
spelling	my.usm.eprints.37227 http://eprints.usm.my/37227/ De novo Ring Chromosome 6 in a Child with Multiple Congenital Anomalies Ahmad, Ahzad Hadi Ramli, Siti Fatimah Tan, May Loong Salahshourifar, Iman Alwi, Zilfalil Mohd Yusoff, Narazah QH426-470 Genetics RC Internal medicine Ring chromosome 6, especially if it is de novo, is a rare occurrence. The phenotype of patients with ring chromosome 6 can be highly variable ranging from almost normal to severe malformations and mental retardation. The size and structure of the ring chromosome as well as the level of mosaicism are important factors in determining the clinical phenotype. Here we report an eight month-old child, a product of a non consanguineous marriage, who presented with developmental retardation, hypertelorism, microcephaly, flat occiput, broad nasal bridge, large ears, micrognathia, wide spaced nipples, protruding umbilicus, short stubby fingers, clinodactyly, single palmar crease, short neck with no obvious webbing, and congenital heart defect. Conventional karyotyping and Whole Chromosome Paint of the peripheral leukocytes showed 46,XY,r(6)(p25q27) karyotype with plausible breakpoints at p25 and q27 end. Conventional karyotyping of both parents showed normal karyotype. To the best of our knowledge, this is the first report of a Malay individual with ring chromosome 6, and this report adds to the collective knowledge of this rare chromosome abnormality. Kobe University School of Medicine 2010 Article PeerReviewed application/pdf en cc_by http://eprints.usm.my/37227/1/E79.pdf Ahmad, Ahzad Hadi and Ramli, Siti Fatimah and Tan, May Loong and Salahshourifar, Iman and Alwi, Zilfalil and Mohd Yusoff, Narazah (2010) De novo Ring Chromosome 6 in a Child with Multiple Congenital Anomalies. Kobe Journal of Medical Sciences, 56 (2). E79-E84. ISSN 0023-2513 http://www.med.kobe-u.ac.jp/journal/contents/56/E79.pdf
institution	Universiti Sains Malaysia
building	Hamzah Sendut Library
collection	Institutional Repository
continent	Asia
country	Malaysia
content_provider	Universiti Sains Malaysia
content_source	USM Institutional Repository
url_provider	http://eprints.usm.my/
language	English
topic	QH426-470 Genetics RC Internal medicine
spellingShingle	QH426-470 Genetics RC Internal medicine Ahmad, Ahzad Hadi Ramli, Siti Fatimah Tan, May Loong Salahshourifar, Iman Alwi, Zilfalil Mohd Yusoff, Narazah De novo Ring Chromosome 6 in a Child with Multiple Congenital Anomalies
description	Ring chromosome 6, especially if it is de novo, is a rare occurrence. The phenotype of patients with ring chromosome 6 can be highly variable ranging from almost normal to severe malformations and mental retardation. The size and structure of the ring chromosome as well as the level of mosaicism are important factors in determining the clinical phenotype. Here we report an eight month-old child, a product of a non consanguineous marriage, who presented with developmental retardation, hypertelorism, microcephaly, flat occiput, broad nasal bridge, large ears, micrognathia, wide spaced nipples, protruding umbilicus, short stubby fingers, clinodactyly, single palmar crease, short neck with no obvious webbing, and congenital heart defect. Conventional karyotyping and Whole Chromosome Paint of the peripheral leukocytes showed 46,XY,r(6)(p25q27) karyotype with plausible breakpoints at p25 and q27 end. Conventional karyotyping of both parents showed normal karyotype. To the best of our knowledge, this is the first report of a Malay individual with ring chromosome 6, and this report adds to the collective knowledge of this rare chromosome abnormality.
format	Article
author	Ahmad, Ahzad Hadi Ramli, Siti Fatimah Tan, May Loong Salahshourifar, Iman Alwi, Zilfalil Mohd Yusoff, Narazah
author_facet	Ahmad, Ahzad Hadi Ramli, Siti Fatimah Tan, May Loong Salahshourifar, Iman Alwi, Zilfalil Mohd Yusoff, Narazah
author_sort	Ahmad, Ahzad Hadi
title	De novo Ring Chromosome 6 in a Child with Multiple Congenital Anomalies
title_short	De novo Ring Chromosome 6 in a Child with Multiple Congenital Anomalies
title_full	De novo Ring Chromosome 6 in a Child with Multiple Congenital Anomalies
title_fullStr	De novo Ring Chromosome 6 in a Child with Multiple Congenital Anomalies
title_full_unstemmed	De novo Ring Chromosome 6 in a Child with Multiple Congenital Anomalies
title_sort	de novo ring chromosome 6 in a child with multiple congenital anomalies
publisher	Kobe University School of Medicine
publishDate	2010
url	http://eprints.usm.my/37227/1/E79.pdf http://eprints.usm.my/37227/ http://www.med.kobe-u.ac.jp/journal/contents/56/E79.pdf
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score	13.211869

De novo Ring Chromosome 6 in a Child with Multiple Congenital Anomalies

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