A 1Mb-sized microdeletion Xq26.2 encompassing the GPC3 gene in a fetus with Simpson-Golabi-Behmel syndrome. Report, antenatal findings and review

Jan Weichert; Andreas Schröer; Feriel Amari; Reiner Siebert; Almuth Caliebe; Inga Nagel; Gabriele Gillessen-Kaesbach; Inga Mohrmann; Yorck Hellenbroich

doi:10.1016/j.ejmg.2011.02.009

A 1Mb-sized microdeletion Xq26.2 encompassing the GPC3 gene in a fetus with Simpson-Golabi-Behmel syndrome. Report, antenatal findings and review

Jan Weichert, Andreas Schröer, Feriel Amari, Reiner Siebert, Almuth Caliebe, Inga Nagel, Gabriele Gillessen-Kaesbach, Inga Mohrmann, Yorck Hellenbroich

16 Zitate (Scopus)

Abstract

Simpson-Golabi-Behmel syndrome (SGBS) is a rare X-linked recessive disorder encompassing pre- and postnatal overgrowth and a variety of additional anomalies including craniofacial dysmorphism, macrocephaly, congenital heart defects and genitourinary anomalies. There is little published information regarding the prenatal presentation of SGBS in pregnancy. In the present report we describe the antenatal features of an affected fetus from 12 gestational weeks onwards, subsequently diagnosed with SGBS by molecular testing positive for GPC3 gene mutation. © 2011 Elsevier Masson SAS.

Originalsprache	Englisch
Titel	European Journal of Medical Genetics
Seitenumfang	5
Erscheinungsdatum	05.2011
Seiten	343-347
ISBN (Print)	1878-0849 (Electronic)\r1769-7212 (Linking)
DOIs	https://doi.org/10.1016/j.ejmg.2011.02.009
Publikationsstatus	Veröffentlicht - 05.2011

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10.1016/j.ejmg.2011.02.009

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Weichert, J., Schröer, A., Amari, F., Siebert, R., Caliebe, A., Nagel, I., Gillessen-Kaesbach, G., Mohrmann, I., & Hellenbroich, Y. (2011). A 1Mb-sized microdeletion Xq26.2 encompassing the GPC3 gene in a fetus with Simpson-Golabi-Behmel syndrome. Report, antenatal findings and review. in European Journal of Medical Genetics (S. 343-347). (European Journal of Medical Genetics; Band 54). https://doi.org/10.1016/j.ejmg.2011.02.009

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abstract = "Simpson-Golabi-Behmel syndrome (SGBS) is a rare X-linked recessive disorder encompassing pre- and postnatal overgrowth and a variety of additional anomalies including craniofacial dysmorphism, macrocephaly, congenital heart defects and genitourinary anomalies. There is little published information regarding the prenatal presentation of SGBS in pregnancy. In the present report we describe the antenatal features of an affected fetus from 12 gestational weeks onwards, subsequently diagnosed with SGBS by molecular testing positive for GPC3 gene mutation. {\textcopyright} 2011 Elsevier Masson SAS.",

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doi = "10.1016/j.ejmg.2011.02.009",

language = "English",

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Weichert, J, Schröer, A, Amari, F, Siebert, R, Caliebe, A, Nagel, I, Gillessen-Kaesbach, G, Mohrmann, I & Hellenbroich, Y 2011, A 1Mb-sized microdeletion Xq26.2 encompassing the GPC3 gene in a fetus with Simpson-Golabi-Behmel syndrome. Report, antenatal findings and review. in European Journal of Medical Genetics. European Journal of Medical Genetics, Bd. 54, S. 343-347. https://doi.org/10.1016/j.ejmg.2011.02.009

A 1Mb-sized microdeletion Xq26.2 encompassing the GPC3 gene in a fetus with Simpson-Golabi-Behmel syndrome. Report, antenatal findings and review. / Weichert, Jan; Schröer, Andreas; Amari, Feriel et al.
European Journal of Medical Genetics. 2011. S. 343-347 (European Journal of Medical Genetics; Band 54).

Publikation: Kapitel in Büchern/Berichten/Konferenzbänden › Kapitel › Begutachtung

TY - CHAP

T1 - A 1Mb-sized microdeletion Xq26.2 encompassing the GPC3 gene in a fetus with Simpson-Golabi-Behmel syndrome. Report, antenatal findings and review

AU - Weichert, Jan

AU - Schröer, Andreas

AU - Amari, Feriel

AU - Siebert, Reiner

AU - Caliebe, Almuth

AU - Nagel, Inga

AU - Gillessen-Kaesbach, Gabriele

AU - Mohrmann, Inga

AU - Hellenbroich, Yorck

PY - 2011/5

Y1 - 2011/5

N2 - Simpson-Golabi-Behmel syndrome (SGBS) is a rare X-linked recessive disorder encompassing pre- and postnatal overgrowth and a variety of additional anomalies including craniofacial dysmorphism, macrocephaly, congenital heart defects and genitourinary anomalies. There is little published information regarding the prenatal presentation of SGBS in pregnancy. In the present report we describe the antenatal features of an affected fetus from 12 gestational weeks onwards, subsequently diagnosed with SGBS by molecular testing positive for GPC3 gene mutation. © 2011 Elsevier Masson SAS.

AB - Simpson-Golabi-Behmel syndrome (SGBS) is a rare X-linked recessive disorder encompassing pre- and postnatal overgrowth and a variety of additional anomalies including craniofacial dysmorphism, macrocephaly, congenital heart defects and genitourinary anomalies. There is little published information regarding the prenatal presentation of SGBS in pregnancy. In the present report we describe the antenatal features of an affected fetus from 12 gestational weeks onwards, subsequently diagnosed with SGBS by molecular testing positive for GPC3 gene mutation. © 2011 Elsevier Masson SAS.

U2 - 10.1016/j.ejmg.2011.02.009

DO - 10.1016/j.ejmg.2011.02.009

M3 - Chapter

C2 - 21362501

SN - 1878-0849 (Electronic)\r1769-7212 (Linking)

T3 - European Journal of Medical Genetics

SP - 343

EP - 347

BT - European Journal of Medical Genetics

ER -

A 1Mb-sized microdeletion Xq26.2 encompassing the GPC3 gene in a fetus with Simpson-Golabi-Behmel syndrome. Report, antenatal findings and review

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