Sarah Guterman1,2, Claire Beneteau3, Sylvia Redon4, Céline Dupont5, Chantal Missirian6, Pauline Jaeger7, Berenice Herve1,2, Clémence Jacquin8, Nathalie Douet-Guilbert9, Marianne Till7, Anne-Claude Tabet5, Kamran Moradkhani3, Valérie Malan10, Martine Doco-Fenzy8,11, François Vialard1,2. 1. Fédération de Génétique, Centre Hospitalier Intercommunal Poissy-St-Germain-en-Laye, Poissy, France. 2. EA-7404-GIG, UFR des Sciences de la santé Simone VEIL, UVSQ, Montigny le Bretonneux, France. 3. Service de Génétique Médicale, CHU de Nantes, Nantes, France. 4. Laboratoire de Génétique Moléculaire, CHU de Brest, Brest, France. 5. Unité de Cytogénétique, Hôpital Robert Debré, Paris, France. 6. Unité de Génétique Clinique, CHU Marseille-Hôpital de la Timone, Marseille, France. 7. Service de Génétique, Hospices Civils de Lyon, Lyon, France. 8. Service de Génétique, CHU de Reims, Reims, France. 9. Laboratoire de Cytogénétique, CHU de Brest, Brest, France. 10. Service d'Histologie-Embryologie-Cytogénétique, Hôpital Necker-Enfants Malades, APHP, Paris, France. 11. EA3801, SFR CAP Santé, Reims, France.
Abstract
OBJECTIVE/ METHOD: 1p36 deletion syndrome is considered to be the most common deletion after 22q11.2 deletion. It is characterized by specific facial features, developmental delay, and organ defects. The primary objective of the present multicenter study was to survey all the cases of 1p36 deletion diagnosed prenatally by French cytogenetics laboratories using a chromosomal microarray. We then compared these new cases with the literature data. RESULTS: Ten new cases were reported. On average, the 1p36 deletion was diagnosed at 19 weeks of gestation. The size of the deletion ranged from 1.6 to 16 Mb. The 1p36 deletion was the only chromosomal abnormality in eight cases and was associated with a complex chromosome 1 rearrangement in the two remaining cases. The invasive diagnostic procedure had always been prompted by abnormal ultrasound findings: elevated nuchal translucency, structural brain abnormality, retrognathia, or a cardiac defect. Multiple anomalies were present in all cases. DISCUSSION: We conclude that 1p36 deletion is not associated with any specific prenatal signs. We suggest that a prenatal observation of ventriculomegaly, congenital heart defect, or facial dysmorphism should prompt the clinician to consider a diagnosis of 1p36 deletion syndrome.
OBJECTIVE/ METHOD: 1p36 deletion syndrome is considered to be the most common deletion after 22q11.2 deletion. It is characterized by specific facial features, developmental delay, and organ defects. The primary objective of the present multicenter study was to survey all the cases of 1p36 deletion diagnosed prenatally by French cytogenetics laboratories using a chromosomal microarray. We then compared these new cases with the literature data. RESULTS: Ten new cases were reported. On average, the 1p36 deletion was diagnosed at 19 weeks of gestation. The size of the deletion ranged from 1.6 to 16 Mb. The 1p36 deletion was the only chromosomal abnormality in eight cases and was associated with a complex chromosome 1 rearrangement in the two remaining cases. The invasive diagnostic procedure had always been prompted by abnormal ultrasound findings: elevated nuchal translucency, structural brain abnormality, retrognathia, or a cardiac defect. Multiple anomalies were present in all cases. DISCUSSION: We conclude that 1p36 deletion is not associated with any specific prenatal signs. We suggest that a prenatal observation of ventriculomegaly, congenital heart defect, or facial dysmorphism should prompt the clinician to consider a diagnosis of 1p36 deletion syndrome.
Authors: D Nistico'; F Guidolin; C O Navarra; M Bobbo; A Magnolato; A P D'Adamo; E Giorgio; B Pivetta; E Barbi; P Gasparini; M Cadenaro; F Sirchia Journal: BMC Pediatr Date: 2020-05-09 Impact factor: 2.125