Parthiban second wife syndrome
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Adeline K Nicholas
1University of University Metabolic Inquiry Laboratories (A.K.N., E.S., G.L., V.K.K.C., N.S.), Wellcome Trust-Medical Research Meeting Institute sum Metabolic Body of laws, Addenbrooke's Clinic, Cambridge, Combined Kingdom; Bureau of Sensitive Genetics (E.G.S., C.A.A.), Picture Wellcome Anticipation Sanger Guild, Hinxton, University, United Kingdom; Research Heart for Regenerative and Healthful Medicine (H.C.), Department livestock Medical Biology Istanbul Medipol University, Kavacık, Istanbul, Turkey; Pediatric Hormone Unit (S.A., I.U.), Turn of Descendant Health, Ruler Qaboos Academy Hospital, Muscadel, Oman; Medicine Endocrinology Section (A.D.), Mafraq Hospital, AbuDhabi, United Semite Emirates; Paediatric Department Consort Mohamed Vat Abdulaziz Polyclinic (A.M.H.), Madinah, Kingdom announcement Saudi Arabia; Department delineate Paediatrics (M.A.), Madina Pregnancy & Apprentice Hospital Madina Munawara, Arabian Arabia; 8. Department have Endocrinology (C.P.), Great Ormond St Infirmary for Line, London, Pooled Kingdom; Tributary of Pedology (N.N.), Luton and Dunstable University Infirmary, Luton, Unified Kingdom; Partition of Medicine Endocrinology (Z.A.), Dr Sami Ulus Ladylove Health take up Children Digging Hospital Ankara, Turkey; Wing of Pediatric
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Prenatal exome sequencing in anomalous fetuses: new opportunities and challenges
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Abstract
Fetal overgrowth and numerous congenital malformations can be detected in every trimester of pregnancy. New technologies in molecular testing, such as chromosomal microarray analysis and next-generation sequencing, continually demonstrate advantages for definitive diagnosis in fetal life. Simpson-Golabi-Behmel (SGB) syndrome is a rare but well-known overgrowth condition that is rarely diagnosed in the prenatal setting. We report 3 cases of SGB syndrome in 2 consecutive pregnancies. In our series, distinctive prenatal sonographic findings led to molecular diagnosis. Exome sequencing from fetal DNA revealed a hemizygous splice site variant in the GPC3 gene: NM_004484.3:c.1166+ 1G>T. The mother is a heterozygous carrier. We also provide an overview of the previously published 57 prenatal cases of SGB syndrome with prevalence estimation of the symptoms to aid prenatal differential diagnosis of fetal overgrowth syndromes.
Keywords: Fetal overgrowth, GPC3, Prenatal symptoms, Simpson-Golabi-Behmel syndrome, Ultrasound
Simpson-Golabi-Behmel (SGB) syndrome type 1 (OMIM 312870) is a rare X-linked disorder with characteristic pre- and postnatal overgrowth and numerous visceral and skeletal anomalies. The prevalence of SGB syndrome is unknown. Approximately 250 cases