دورية
New insights into the phenotypes of 6q deletions
| العنوان: | New insights into the phenotypes of 6q deletions |
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| المؤلفون: | Hopkin, R.J., Schorry, E., Bofinger, M., Milatovich, A., Stern, H.J., Jayne, C., Saal, H.M. |
| المصدر: | American Journal of Medical Genetics. Part A; 27 June 1997, Vol. 70 Issue: 4 p377-386, 10p |
| مستخلص: | 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)(q11q16)] 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)(q15q25)] 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 growth retardation (68%). Am. J. Med. Genet. 70:377386, 1997. © 1997 Wiley-Liss, Inc. |
| قاعدة البيانات: | Supplemental Index |
| تدمد: | 15524825 15524833 |
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| DOI: | 10.1002/(SICI)1096-8628(19970627)70:4<377::AID-AJMG9>3.0.CO;2-Q |