Partial trisomy 6q: case report with necropsy findings.
Open Access
- 1 May 1987
- journal article
- case report
- Published by BMJ in Journal of Medical Genetics
- Vol. 24 (5) , 300-303
- https://doi.org/10.1136/jmg.24.5.300
Abstract
A male infant with partial trisomy 6q is described. This patient shares features with 12 previously reported cases including hypertelorism, cleft soft palate, bow shaped mouth, micrognathia, short, laterally webbed neck, clubbing of hands and feet, syndactyly, and growth retardation. In addition, visceral anomalies less frequently reported are described. These observations may extend the phenotypic characterisation of the trisomy 6q syndrome.Keywords
This publication has 8 references indexed in Scilit:
- Duplication 6q24 → 6qter in an infant from a balanced paternal translocationAmerican Journal of Medical Genetics, 1983
- Trisomy 6qterClinical Genetics, 1981
- An infant with trisomy 6q21 leads to 6qter.1981
- Semen Analysis in Subfertile Balanced-Translocation CarriersFertility and Sterility, 1980
- Familial partial trisomy: 6q25 leads to 6qter.1980
- Duplication 6q syndromeAmerican Journal of Medical Genetics, 1979
- Partial trisomy 6Clinical Genetics, 1978
- [Partial trisomy for the long arm of a C chromosome (?6) through t(Gp+;Cqs+) translocation].1969