Article
Deletion of (11)(q24.2) in a mother and daughter with similar phenotypes.
American journal of medical genetics - 1 Dec 1994
Neavel C B, Soukup S
Abstract excerpt
A del(11) (q24.2) was ascertained in a 2-year-old child and subsequently in her 20-year-old mother. Both mother and daughter had developmental delay, short stature, and "coarse" facial appearance. We compare our patients' manifestations to those associated with the distal 11q2 deletion phenotype ("Jacobsen" syndrome), and to the one other reported case of del(11)(q24.2). Our patients did not resemble this latter...
Topics
- Adult
- Child, Preschool
- Chromosome Deletion
- Chromosomes, Human, Pair 11
- Family Health
- Female
- Humans
- Intellectual Disability
- Male
- Phenotype
- Syndrome