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Further identification of a D/E translocation
- Source :
- American journal of diseases of children (1960). 129(8)
- Publication Year :
- 1975
-
Abstract
- • An infant previously reported to have psychomotor retardation and multiple congenital anomalies including hypotonia, failure to thrive, peculiar facies, low-set ears, micrognathia, and cryptorchidism in association with monosomy due to a D/E (13-15/17-18) translocation has been reexamined. Further cytogenetic studies, using fluorescent techniques, indicate the translocation involves chromosomes 15 and 17. Only two other patients with partial monosomy due to grossly similar D/E translocations have been reported. On reexamination, the translocation in one has recently been found to involve chromosomes 15 and 18 and that in the other has not been further defined. ( Am J Dis Child 129:959-961, 1975)
- Subjects :
- Male
congenital, hereditary, and neonatal diseases and abnormalities
Monosomy
Micrognathism
Peculiar facies
Chromosomal translocation
Chromosome Disorders
Translocation, Genetic
Cryptorchidism
medicine
Humans
Abnormalities, Multiple
Child
Chromosomes, Human, 16-18
Genetics
Chromosome Aberrations
Epilepsy
Psychomotor retardation
business.industry
Infant
medicine.disease
Hypotonia
Spinal Fusion
Scoliosis
Child, Preschool
Pediatrics, Perinatology and Child Health
Failure to thrive
medicine.symptom
Psychomotor Disorders
business
Chromosomes, Human, 13-15
Subjects
Details
- ISSN :
- 0002922X
- Volume :
- 129
- Issue :
- 8
- Database :
- OpenAIRE
- Journal :
- American journal of diseases of children (1960)
- Accession number :
- edsair.doi.dedup.....b5d270067a05f9d7254d8c0cac90ba95