1.
Am J Med Genet
; 24(2): 211-7, 1986 Jun.
Article
in English
| MEDLINE
| ID: mdl-3717206
ABSTRACT
We report on a severely retarded girl with multiple congenital anomalies. Chromosome studies showed a der (8) chromosome with dup(10p) and deficiency for a small distal segment of 8q. Her father proved to be carrier of a de novo balanced translocation between chromosome 8q and 10p. At 1 year the patient was also found to have the Pendred syndrome, an autosomal recessive defect in thyroid organification. The concurrence of chromosome anomalies and single gene disorders might not be too rare, but can be easily overlooked. Yet there are important consequences for genetic counseling. Moreover, recognition of these concurrences may help gene mapping.
Subject(s)
Chromosomes, Human, 6-12 and X , Intellectual Disability/genetics , Thyroid Gland/abnormalities , Chromosome Deletion , Deafness/genetics , Female , Growth Disorders/genetics , Humans
2.
Ann Intern Med
; 103(2): 225-6, 1985 Aug.
Article
in English
| MEDLINE
| ID: mdl-4014904
Subject(s)
Anabolic Agents/therapeutic use , Hemophilia B/drug therapy , Hemorrhage/prevention & control , Bone Development/drug effects , Child , Ethylestrenol/adverse effects , Ethylestrenol/therapeutic use , Factor IX/metabolism , Hemophilia B/blood , Hemophilia B/complications , Hemorrhage/etiology , Humans , Male , Testosterone/adverse effects , Testosterone/analogs & derivatives , Testosterone/therapeutic use
3.
Prog Clin Biol Res
; 200: 277-81, 1985.
Article
in English
| MEDLINE
| ID: mdl-4080740