13q31.1 microdeletion: A prenatal case report with macrocephaly and macroglossia

Poreau, Brice; Lin, Stephanie K.; Bosson, Caroline; Dieterich, Klaus; Satre, Véronique; Devillard, Françoise; Guigue, Virginie; Ronin, Candice; Brouillet, Sophie; Barbier, Christophe; Jouk, Pierre‐Simon; Coutton, Charles

doi:10.1016/j.ejmg.2015.09.003

Cited by 5 publications

(2 citation statements)

References 21 publications

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“…Antiphospholipid antibodies were undetectable. Fetal karyotyping and chromosomal microarray analysis (CMA) were performed at 24 weeks' gestational (WG) as previously described . At 24 + 4 WG, ultrasonography showed a marked deceleration in cephalic growth, with pathological median cerebral artery and umbilical Dopplers.…”

Section: Methodsmentioning

confidence: 99%

Genomic duplication in the 19q13.42 imprinted region identified as a new genetic cause of intrauterine growth restriction

Pètre

Lorès

Sartelet³

et al. 2018

Clinical Genetics

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We report findings from a male fetus of 26 weeks' gestational age with severe isolated intrauterine growth restriction (IUGR). Chromosomal microarray analysis (CMA) on amniotic fluid cells revealed a 1.06-Mb duplication in 19q13.42 inherited from the healthy father. This duplication contains 34 genes including ZNF331, a gene encoding a zinc-finger protein specifically imprinted (paternally expressed) in the placenta. Study of the ZNF331 promoter by methylation-specific-multiplex ligation-dependent probe amplification showed that the duplicated allele was not methylated in the fetus unlike in the father's genome, suggesting both copies of the ZNF331 gene are expressed in the fetus. The anti-ZNF331 immunohistochemical analysis confirmed that ZNF331 was expressed at higher levels in renal and placental tissues from this fetus compared to controls. Interestingly, ZNF331 expression levels in the placenta have previously been reported to inversely correlate with fetal growth parameters. The original observation presented in this report showed that duplication of ZNF331 could be a novel genetic cause of isolated IUGR and underlines the usefulness of CMA to investigate the genetic causes of isolated severe IUGR.

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Section: Methodsmentioning

confidence: 99%

Genomic duplication in the 19q13.42 imprinted region identified as a new genetic cause of intrauterine growth restriction

Pètre

Lorès

Sartelet³

et al. 2018

Clinical Genetics

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“…Previously reported deletions in 13q were fairly large; hence, smaller deletions were thought to be quite rare. 11 , 12 Additionally, a previously reported deletion was very similar to this deletion; however, it had been identified in a fetus through non-invasive prenatal testing. 13 The fourth was a 4.43-Mb deletion in 18q12.2–q12.3 ( Figure 1d ).…”

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confidence: 87%

Characteristics of rare and private deletions identified in phenotypically normal individuals

Shimojima

Yamamoto

2017

Hum Genome Var

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Genomic copy number variations (CNVs) identified through chromosomal microarray testing must be validated to confirm whether they are pathogenically and functionally relevant to their respective clinical features. Although larger deletions have a higher probability to be pathogenic, this is not always true. Phenotypically normal individuals showed five CNV deletions larger than 1.5 Mb. The genes related to autosomal dominant trait were absent within these CNV deletions.

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Congenital Subcutaneous Mixed Venous-Lymphatic Orofacial Malformation Associated with Macroglossia: Prenatal Diagnosis with Ultrasound and Fetal MRI

Napolitano

Munari

Ravelli

et al. 2017

Prenatal Diagnosis of Orofacial Malformations

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13q31.1 microdeletion: A prenatal case report with macrocephaly and macroglossia

Cited by 5 publications

References 21 publications

Genomic duplication in the 19q13.42 imprinted region identified as a new genetic cause of intrauterine growth restriction

Genomic duplication in the 19q13.42 imprinted region identified as a new genetic cause of intrauterine growth restriction

Characteristics of rare and private deletions identified in phenotypically normal individuals

Congenital Subcutaneous Mixed Venous-Lymphatic Orofacial Malformation Associated with Macroglossia: Prenatal Diagnosis with Ultrasound and Fetal MRI

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