Article
Trisomy 17p11-pter: unbalanced pericentric inversion, inv(17)(p11q25) in two patients, unbalanced translocations t(4;17)(q27;p11) in a newborn and t(4;17) (p16;p11.2) in a fetus.
Clinical dysmorphology - 1 Jan 1995
Lurie I W, Gurevich D B, Binkert F, Schinzel A
Abstract excerpt
Three patients and one fetus with almost complete trisomy 17p due to familial rearrangements are described. Two patients followed unbalanced transmission of a familial pericentric inversion, and one patient and one fetus were due to unbalanced segregation of familial translocations. In the invers...
Topics
- Abnormalities, Multiple
- Charcot-Marie-Tooth Disease
- Child
- Chromosomes, Human, Pair 17
- Chromosomes, Human, Pair 4
- Female
- Humans
- Infant, Newborn
- Karyotyping
- Male
- Pedigree
- Phenotype
- Pregnancy
- Prognosis
- Translocation, Genetic
- Trisomy