A 13-year-old girl with 18p deletion syndrome presenting Turner syndrome-like clinical features of short stature, short webbed neck, low posterior hair line, puffy eyelids and increased carrying angle of the elbows

A 13-year-old girl with 18p deletion syndrome presenting Turner syndrome-like clinical features of short stature, short webbed neck, low posterior hair line, puffy eyelids and increased carrying angle of the elbows

Objective: We report a 13-year-old girl with 18p deletion syndrome presenting Turner syndrome-like clinical features. Case report: A 13-year-old girl was referred for genetic counseling of Turner syndrome-like clinical features of short stature, short webbed neck, low posterior hair line, puffy eyel...

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Main Authors: Chih-Ping Chen, Shuan-Pei Lin, Schu-Rern Chern, Peih-Shan Wu, Shin-Wen Chen, Shih-Ting Lai, Tzu-Yun Chuang, Wen-Lin Chen, Wayseen Wang
Format: Article
Language:English
Published: Elsevier 2018-08-01
Series:Taiwanese Journal of Obstetrics & Gynecology
Online Access:http://www.sciencedirect.com/science/article/pii/S1028455918301372
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spelling doaj-d0e722966ad041db957ae76afd14bf7e2020-11-25T00:20:31ZengElsevierTaiwanese Journal of Obstetrics & Gynecology1028-45592018-08-01574583587A 13-year-old girl with 18p deletion syndrome presenting Turner syndrome-like clinical features of short stature, short webbed neck, low posterior hair line, puffy eyelids and increased carrying angle of the elbowsChih-Ping Chen0Shuan-Pei Lin1Schu-Rern Chern2Peih-Shan Wu3Shin-Wen Chen4Shih-Ting Lai5Tzu-Yun Chuang6Wen-Lin Chen7Wayseen Wang8Department of Obstetrics and Gynecology, MacKay Memorial Hospital, Taipei, Taiwan; Department of Medical Research, MacKay Memorial Hospital, Taipei, Taiwan; Department of Biotechnology, Asia University, Taichung, Taiwan; School of Chinese Medicine, College of Chinese Medicine, China Medical University, Taichung, Taiwan; Institute of Clinical and Community Health Nursing, National Yang-Ming University, Taipei, Taiwan; Department of Obstetrics and Gynecology, School of Medicine, National Yang-Ming University, Taipei, Taiwan; Corresponding author. Department of Obstetrics and Gynecology, Mackay Memorial Hospital, 92, Section 2, Chung-Shan North Road, Taipei, Taiwan. Fax: +886 2 25433642, +886 2 25232448.Department of Medical Research, MacKay Memorial Hospital, Taipei, Taiwan; Department of Pediatrics, MacKay Memorial Hospital, Taipei, Taiwan; Department of Medicine, MacKay Medical College, New Taipei City, Taiwan; Department of Early Childhood Care, National Taipei University of Nursing and Health Sciences, Taipei, TaiwanDepartment of Medical Research, MacKay Memorial Hospital, Taipei, TaiwanGene Biodesign Co. Ltd, Taipei, TaiwanDepartment of Obstetrics and Gynecology, MacKay Memorial Hospital, Taipei, TaiwanDepartment of Obstetrics and Gynecology, MacKay Memorial Hospital, Taipei, TaiwanDepartment of Obstetrics and Gynecology, MacKay Memorial Hospital, Taipei, TaiwanDepartment of Obstetrics and Gynecology, MacKay Memorial Hospital, Taipei, TaiwanDepartment of Medical Research, MacKay Memorial Hospital, Taipei, Taiwan; Department of Bioengineering, Tatung University, Taipei, TaiwanObjective: We report a 13-year-old girl with 18p deletion syndrome presenting Turner syndrome-like clinical features. Case report: A 13-year-old girl was referred for genetic counseling of Turner syndrome-like clinical features of short stature, short webbed neck, low posterior hair line, puffy eyelids and increased carrying angle of the elbows. The girl also had mild intellectual disability, psychomotor developmental delay, speech disorder, high-arched palate, hypertelorism and mid-face hypoplasia. Cytogenetic analysis of the girl revealed a karyotype of 46,XX,del(18) (p11.2). The parental karyotypes were normal. Array comparative genomic hybridization analysis on the DNA extracted from the peripheral blood revealed a 13.93-Mb deletion of 18p11.32-p11.21 or arr 18p11.32p11.21 (148,993–14,081,858) × 1.0 [GRCh37 (hg19)] encompassing 52 Online Mendelian Inheritance in Man (OMIM) genes including USP14, TYMS, SMCHD1, TGIF1, LAMA1, TWSG1, GNAL and PTPN2. Polymorphic DNA marker analysis revealed a maternal origin of the deletion. Conclusion: Females with Turner syndrome-like clinical features in association with intellectual disability, facial dysmorphism and psychomotor developmental delay should be suspected of having chromosome deletion syndromes. Keywords: 18p deletion syndrome, Turner syndrome, Short staturehttp://www.sciencedirect.com/science/article/pii/S1028455918301372
collection DOAJ
language English
format Article
sources DOAJ
author Chih-Ping Chen
Shuan-Pei Lin
Schu-Rern Chern
Peih-Shan Wu
Shin-Wen Chen
Shih-Ting Lai
Tzu-Yun Chuang
Wen-Lin Chen
Wayseen Wang
spellingShingle Chih-Ping Chen
Shuan-Pei Lin
Schu-Rern Chern
Peih-Shan Wu
Shin-Wen Chen
Shih-Ting Lai
Tzu-Yun Chuang
Wen-Lin Chen
Wayseen Wang
A 13-year-old girl with 18p deletion syndrome presenting Turner syndrome-like clinical features of short stature, short webbed neck, low posterior hair line, puffy eyelids and increased carrying angle of the elbows
Taiwanese Journal of Obstetrics & Gynecology
author_facet Chih-Ping Chen
Shuan-Pei Lin
Schu-Rern Chern
Peih-Shan Wu
Shin-Wen Chen
Shih-Ting Lai
Tzu-Yun Chuang
Wen-Lin Chen
Wayseen Wang
author_sort Chih-Ping Chen
title A 13-year-old girl with 18p deletion syndrome presenting Turner syndrome-like clinical features of short stature, short webbed neck, low posterior hair line, puffy eyelids and increased carrying angle of the elbows
title_short A 13-year-old girl with 18p deletion syndrome presenting Turner syndrome-like clinical features of short stature, short webbed neck, low posterior hair line, puffy eyelids and increased carrying angle of the elbows
title_full A 13-year-old girl with 18p deletion syndrome presenting Turner syndrome-like clinical features of short stature, short webbed neck, low posterior hair line, puffy eyelids and increased carrying angle of the elbows
title_fullStr A 13-year-old girl with 18p deletion syndrome presenting Turner syndrome-like clinical features of short stature, short webbed neck, low posterior hair line, puffy eyelids and increased carrying angle of the elbows
title_full_unstemmed A 13-year-old girl with 18p deletion syndrome presenting Turner syndrome-like clinical features of short stature, short webbed neck, low posterior hair line, puffy eyelids and increased carrying angle of the elbows
title_sort 13-year-old girl with 18p deletion syndrome presenting turner syndrome-like clinical features of short stature, short webbed neck, low posterior hair line, puffy eyelids and increased carrying angle of the elbows
publisher Elsevier
series Taiwanese Journal of Obstetrics & Gynecology
issn 1028-4559
publishDate 2018-08-01
description Objective: We report a 13-year-old girl with 18p deletion syndrome presenting Turner syndrome-like clinical features. Case report: A 13-year-old girl was referred for genetic counseling of Turner syndrome-like clinical features of short stature, short webbed neck, low posterior hair line, puffy eyelids and increased carrying angle of the elbows. The girl also had mild intellectual disability, psychomotor developmental delay, speech disorder, high-arched palate, hypertelorism and mid-face hypoplasia. Cytogenetic analysis of the girl revealed a karyotype of 46,XX,del(18) (p11.2). The parental karyotypes were normal. Array comparative genomic hybridization analysis on the DNA extracted from the peripheral blood revealed a 13.93-Mb deletion of 18p11.32-p11.21 or arr 18p11.32p11.21 (148,993–14,081,858) × 1.0 [GRCh37 (hg19)] encompassing 52 Online Mendelian Inheritance in Man (OMIM) genes including USP14, TYMS, SMCHD1, TGIF1, LAMA1, TWSG1, GNAL and PTPN2. Polymorphic DNA marker analysis revealed a maternal origin of the deletion. Conclusion: Females with Turner syndrome-like clinical features in association with intellectual disability, facial dysmorphism and psychomotor developmental delay should be suspected of having chromosome deletion syndromes. Keywords: 18p deletion syndrome, Turner syndrome, Short stature
url http://www.sciencedirect.com/science/article/pii/S1028455918301372
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