PMID: 9182778Jun 27, 1997Paper

New insights into the phenotypes of 6q deletions

American Journal of Medical Genetics
R J HopkinH M Saal

Abstract

Deletions of chromosome 6q are rare. We report 3 new patients with 6q deletions. Case 1 is a male with an interstitial deletion [del(6)(q13q14.2)], hypotonia, speech delays, and minor anomalies. Case 2 is a male with an interstitial deletion [del(6)(q16.2q22.32)] and malformations, including truncus arteriosus and bilateral oligodactyly. Case 3 is a male with a terminal deletion [del(6)(q25.2)] with retinal pits, hydrocephalus, atrioventricular canal, and hydronephrosis. The findings in our patients and those from 57 previously reported cases demonstrated 3 phenotypic groups associated with 6q deletions. Group A [del(6)(q11-q16)] had a high incidence of hernias, upslanting palpebral fissures, and thin lips with lower frequency of microcephaly, micrognathia, and heart malformations. Group B [del(6)(q15-q25)] was associated with increased intrauterine growth retardation, abnormal respiration, hypertelorism, and upper limb malformations. Group C [del(6)(q25-qter)] was associated with retinal abnormalities, cleft palate, and genital hypoplasia. The only universal finding among all patients with 6q deletions was mental retardation. Other findings common to all 3 groups included ear anomalies (90%), hypotonia (82%), and postnatal gro...Continue Reading

Citations

Aug 1, 2002·Proceedings of the National Academy of Sciences of the United States of America·Zhan YinYu-Chung Yang
Jun 17, 2003·Journal of Medical Genetics·B B A De VriesC van Ravenswaaij-Arts
Nov 27, 2008·European Journal of Human Genetics : EJHG·Sandesh Chakravarthy Sreenath NagamaniSau Wai Cheung
Oct 25, 2008·Pediatrics and Neonatology·Pen-Hua SuKai-Chi Yang
Jan 13, 2016·American Journal of Medical Genetics. Part a·Luisa RonzoniDonatella Milani
Oct 18, 2008·American Journal of Medical Genetics. Part a·Jia-Chi WangPatrice Eydoux
Feb 13, 2009·American Journal of Medical Genetics. Part a·Jia-Chi WangPatrice Eydoux
Oct 12, 2013·American Journal of Medical Genetics. Part a·Fiorella Gurrieri, David B Everman
Jun 25, 2013·American Journal of Medical Genetics. Part a·Aglaia VignoliMaria Paola Canevini

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