Literature DB >> 22887711

Growth charts for 22q11 deletion syndrome.

Daniel C Tarquinio1, Marilyn C Jones, Kenneth Lyons Jones, Lynne M Bird.   

Abstract

The purpose of this work was to create growth curves specific to the 22q11.2 deletion syndrome. Growth parameters on 188 patients (86 females, 102 males) followed by a group of three dysmorphologists were collected by retrospective chart review. Growth charts for body mass, length/height, and head circumference were generated using a semi-parametric model with goodness-of-fit tests. The resulting charts show that between 25 and 50% of children with 22q11.2 deletion syndrome fall below the 2nd centile for the normal population for all growth parameters. Establishing norms of growth for 22q11.2 deletion syndrome allows the clinician to identify and investigate those children who deviate substantially from the growth profile of this condition.
Copyright © 2012 Wiley Periodicals, Inc.

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Year:  2012        PMID: 22887711     DOI: 10.1002/ajmg.a.35485

Source DB:  PubMed          Journal:  Am J Med Genet A        ISSN: 1552-4825            Impact factor:   2.802


  10 in total

Review 1.  Modeling a model: Mouse genetics, 22q11.2 Deletion Syndrome, and disorders of cortical circuit development.

Authors:  Daniel W Meechan; Thomas M Maynard; Eric S Tucker; Alejandra Fernandez; Beverly A Karpinski; Lawrence A Rothblat; Anthony-S LaMantia
Journal:  Prog Neurobiol       Date:  2015-04-09       Impact factor: 11.685

2.  Neuropsychiatric aspects of 22q11.2 deletion syndrome: considerations in the prenatal setting.

Authors:  Anne S Bassett; Gregory Costain; Christian R Marshall
Journal:  Prenat Diagn       Date:  2016-11-14       Impact factor: 3.050

Review 3.  Hard to swallow: Developmental biological insights into pediatric dysphagia.

Authors:  Anthony-Samuel LaMantia; Sally A Moody; Thomas M Maynard; Beverly A Karpinski; Irene E Zohn; David Mendelowitz; Norman H Lee; Anastas Popratiloff
Journal:  Dev Biol       Date:  2015-11-07       Impact factor: 3.582

Review 4.  Practical guidelines for managing adults with 22q11.2 deletion syndrome.

Authors:  Wai Lun Alan Fung; Nancy J Butcher; Gregory Costain; Danielle M Andrade; Erik Boot; Eva W C Chow; Brian Chung; Cheryl Cytrynbaum; Hanna Faghfoury; Leona Fishman; Sixto García-Miñaúr; Susan George; Anthony E Lang; Gabriela Repetto; Andrea Shugar; Candice Silversides; Ann Swillen; Therese van Amelsvoort; Donna M McDonald-McGinn; Anne S Bassett
Journal:  Genet Med       Date:  2015-01-08       Impact factor: 8.822

Review 5.  22q11 deletion syndrome: current perspective.

Authors:  Bülent Hacıhamdioğlu; Duygu Hacıhamdioğlu; Kenan Delil
Journal:  Appl Clin Genet       Date:  2015-05-18

6.  Dysphagia and disrupted cranial nerve development in a mouse model of DiGeorge (22q11) deletion syndrome.

Authors:  Beverly A Karpinski; Thomas M Maynard; Matthew S Fralish; Samer Nuwayhid; Irene E Zohn; Sally A Moody; Anthony-S LaMantia
Journal:  Dis Model Mech       Date:  2013-12-19       Impact factor: 5.758

7.  Obesity in adults with 22q11.2 deletion syndrome.

Authors:  Sarah L Voll; Erik Boot; Nancy J Butcher; Samantha Cooper; Tracy Heung; Eva W C Chow; Candice K Silversides; Anne S Bassett
Journal:  Genet Med       Date:  2016-08-18       Impact factor: 8.822

8.  Genotypic and phenotypic variability of 22q11.2 microdeletions - an institutional experience.

Authors:  Gabrielle C Manno; Gabrielle S Segal; Alexander Yu; Fangling Xu; Joseph W Ray; Erin Cooney; Allison D Britt; Sunil K Jain; Randall M Goldblum; Sally S Robinson; Jianli Dong
Journal:  AIMS Mol Sci       Date:  2021-12-09

9.  Fetal growth and gestational factors as predictors of schizophrenia in 22q11.2 deletion syndrome.

Authors:  Lily Van; Nancy J Butcher; Gregory Costain; Lucas Ogura; Eva W C Chow; Anne S Bassett
Journal:  Genet Med       Date:  2015-06-18       Impact factor: 8.822

10.  Mowat-Wilson syndrome: growth charts.

Authors:  Ivan Ivanovski; Olivera Djuric; Serena Broccoli; Stefano Giuseppe Caraffi; Patrizia Accorsi; Margaret P Adam; Kristina Avela; Magdalena Badura-Stronka; Allan Bayat; Jill Clayton-Smith; Isabella Cocco; Duccio Maria Cordelli; Goran Cuturilo; Veronica Di Pisa; Juliette Dupont Garcia; Roberto Gastaldi; Lucio Giordano; Andrea Guala; Christina Hoei-Hansen; Mie Inaba; Alessandro Iodice; Jens Erik Klint Nielsen; Vladimir Kuburovic; Brissia Lazalde-Medina; Baris Malbora; Seiji Mizuno; Oana Moldovan; Rikke S Møller; Petra Muschke; Valeria Otelli; Chiara Pantaleoni; Carmelo Piscopo; Maria Luisa Poch-Olive; Igor Prpic; Purificación Marín Reina; Federico Raviglione; Emilia Ricci; Emanuela Scarano; Graziella Simonte; Robert Smigiel; George Tanteles; Luigi Tarani; Aurelien Trimouille; Elvis Terci Valera; Samantha Schrier Vergano; Karin Writzl; Bert Callewaert; Salvatore Savasta; Maria Elisabeth Street; Lorenzo Iughetti; Sergio Bernasconi; Paolo Giorgi Rossi; Livia Garavelli
Journal:  Orphanet J Rare Dis       Date:  2020-06-15       Impact factor: 4.123

  10 in total

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