Two brothers with an unbalanced 8;17 translocation and infantile pyloric stenosis.
Clin Genet
; 48(6): 328-30, 1995 Dec.
Article
in En
| MEDLINE
| ID: mdl-8835331
ABSTRACT
Two half-brothers are described who had developmental delay and minor dysmorphic features, both of whom had operative treatment for pyloric stenosis. They had identical unbalanced karyotypes 46,XY,-17,+der(17)t(8;17) (q24;q25). This was inherited from their mother who had the balanced form of the translocation. She was of normal intelligence and had no history of pyloric stenosis herself or in her extended family. It is suggested that the unbalanced chromosomal rearrangement could have been associated with the development of pyloric stenosis in these two brothers.
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Collection:
01-internacional
Database:
MEDLINE
Main subject:
Pyloric Stenosis
/
Translocation, Genetic
/
Chromosomes, Human, Pair 8
/
Chromosomes, Human, Pair 17
Limits:
Adult
/
Child
/
Female
/
Humans
/
Male
Language:
En
Journal:
Clin Genet
Year:
1995
Document type:
Article
Affiliation country:
United kingdom