Phenotype and variations associated with the deletion of the 1q44 cytoband and the pathogenic duplication in the 9q32q34.3 cytobands

BMJ Case Reports
Ana Gómez-Carpintero GarcíaRuth Camila Púa Torrejón

Abstract

​The advance in the human genetic field has permitted to identify small chromosome alterations and associate them to a specific phenotype. However, there are many mutations that have not yet been described in the literature. We describe the clinical case of a term newborn with appropriate weight to its gestational age, without perinatal background of interest that, at birth, presented: macrocephaly, hypertelorism, low-set ears, prominent forehead, micrognathia, camptodactyly, bilateral cryptorchidism, inspiratory stridor with the cry, multifocal systolic murmur, wide anterior fontanel and hypotonia of mixed characteristics and in whom a deletion of the 1q44 cytoband and a pathogenic duplication in the 9q32q34.3 cytoband were detected. We perform a review of the literature.

References

Jul 20, 2004·Journal of Human Genetics·Naoki HaradaNaomichi Matsumoto
Oct 3, 2007·American Journal of Medical Genetics. Part C, Seminars in Medical Genetics·Douglas R Stewart, Tjitske Kleefstra
Jun 9, 2012·American Journal of Medical Genetics. Part a·Gaelle ThierryCédric Le Caignec
Sep 15, 2012·European Journal of Medical Genetics·Kaja K SelmerMadeleine Fannemel
Aug 1, 2014·Korean journal of pediatrics·Joo Hyun ChoYoung Youn Choi
Mar 23, 2017·American Journal of Medical Genetics. Part a·Nicholas RaunFrancois V Bolduc

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