NEW DELETION SYNDROME - 1Q43
- 1 January 1981
- journal article
- research article
- Vol. 33 (3), 455-463
Abstract
A male infant showed dysmorphology of the head and face, neck, extremities and genitalia, as well as growth and mental retardation. His G-banded karyotype was 46,XY,-1+der(1),t(1;16)(q43;q24)mat. Combined with 5 previously reported cases involving similar terminal deletions beginning at 1q42 or 43, the homology of phenotypic characteristics apparently permits identification of a new deletion syndrome, the first involving chromosome 1.This publication has 7 references indexed in Scilit:
- Terminal long-arm deletion of chromosome 1 in a male infantHuman Genetics, 1979
- [Long-arm deletion of chromosome 1: 46,XY, del (1) (Q42) (author's transl)].1978
- Terminal deletion of (1)(q42) and its phenotypical manifestationsHuman Genetics, 1978
- Terminal deletion of the long arm of chromosome 1 in a malformed newbornHuman Genetics, 1978
- Cytogenetics of habitual abortion and other reproductive wastageAmerican Journal of Obstetrics and Gynecology, 1977
- Terminal (1)(q43) long-arm deletion of chromosome no. 1 in a three-year-old female.1976
- Chromosome studies in 5,049 consecutive newborn childrenClinical Genetics, 1973