PMID: 9450876Feb 5, 1998Paper

De novo 7q36 deletion: breakpoint analysis and types of holoprosencephaly

American Journal of Medical Genetics
S G FrintsJ P Fryns

Abstract

We report on a de novo 7q36 deletion in a 3-month-old girl with manifestations of the 7q terminal deletion syndrome. Only minimal findings of holoprosencephaly (HPE) were present since only a partial corpus callosum hypoplasia was seen on a magnetic resonance imaging scan of the brain. Extensive fluorescence in situ hybridization analysis showed that the HPE3 critical gene region, inclusive Sonic hedgehog (SHH), En2 (HOX1), and HTR5A, was deleted. A review of 33 other patients with a de novo terminal 7q deletion and the different types of HPE manifestations within these patients will be presented.

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Citations

Jan 16, 2013·Molecular Cytogenetics·Karla de Oliveira PelegrinoMaria de Lourdes Chauffaille
Feb 13, 2013·American Journal of Medical Genetics. Part a·Ana Beleza-MeirelesJorge M Saraiva
Sep 27, 2014·American Journal of Medical Genetics. Part a·Cha Hyohyeon, Cha Gon Lee
Nov 22, 2011·The Journal of Maternal-fetal & Neonatal Medicine : the Official Journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians·Lyn S ChittyLisa Levett
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May 16, 2003·Prenatal Diagnosis·Chih-Ping ChenWayseen Wang
Nov 12, 2005·American Journal of Medical Genetics. Part a·C TysonE Rajcan-Separovic
Jun 17, 2015·American Journal of Medical Genetics. Part a·Simon PoelmansCarine Carels
Jan 1, 2015·Human Genome Variation·Misako OkunoKeisuke Nagasaki
May 4, 2013·Journal of Genetics·Francesca LamiAntonio Percesepe
Nov 23, 2011·American Journal of Medical Genetics. Part a·Carlos A TiradoPrasad Koduru

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